Global Variome shared LOVD
HBB (hemoglobin, beta)
LOVD v.3.0 Build 29 [
Current LOVD status
]
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Global Variome, with Curator vacancy
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View all variants affecting transcripts
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View all variants in gene HBB
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View all individuals with variants in gene HBB
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View all diseases associated with gene HBB
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View available phenotype columns
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View all screenings for gene HBB
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All individuals with variants in gene HBB
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
7865 entries on 79 pages. Showing entries 1 - 100.
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250 per page
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1000 per page
Legend
How to query
« First
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Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00000025
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
BMD/DMD
-
2
1
Global Variome, with Curator vacancy
00000035
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000055
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
2
1
Global Variome, with Curator vacancy
00000066
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
2
1
Global Variome, with Curator vacancy
00000068
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00012168
-
Italy, Florence, Unit of Surgery, Department of Clinical Physiopathology and Institute of Anatomic Pathology, University of Florence
-
-
-
Italy
-
-
-
no (pedigree)
-
FAP1
additional phenotype data available; colorectal phenotype classical 186 polyps; colectomy 23y
1
1
Stefan Aretz
00012210
-
Japan, Tokyo, Department of Biochemistry, Cancer Institute
-
-
-
-
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012247
-
United Kingdom, Salisbury, Wessex Regional Genetics Laboratory, Salisbury District Hospital
-
-
-
United Kingdom (Great Britain)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012248
-
United Kingdom, Salisbury, Wessex Regional Genetics Laboratory, Salisbury District Hospital
-
-
-
United Kingdom (Great Britain)
-
-
-
no (pedigree)
-
FAP1
additional phenotype data available; colorectal phenotype severe thousands polyps
1
1
Stefan Aretz
00012249
-
United Kingdom, Salisbury, Wessex Regional Genetics Laboratory, Salisbury District Hospital
-
-
-
United Kingdom (Great Britain)
-
-
-
no (pedigree)
-
FAP1
additional phenotype data available; colorectal phenotype severe hundreds polyps
1
1
Stefan Aretz
00012250
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012251
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012252
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012253
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012254
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012255
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012256
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012257
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012258
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012259
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012260
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012261
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012262
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012264
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012265
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012467
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012493
-
-
-
-
-
Germany
-
-
-
yes (pedigree)
-
FAP1
additional phenotype data available; colorectal phenotype atypical, multiple polyps entire colon; colectomy 63y
1
1
Stefan Aretz
00012494
-
Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science
-
-
-
(Japan)
-
-
-
no (pedigree)
-
FAP1
additional phenotype data available
1
1
Stefan Aretz
00012496
-
Japan, Tokyo, Department of Biochemistry, Cancer Institute
-
-
-
-
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012518
-
USA, Maryland, Baltimore, The John Hopkins Hereditary Colorectal Cancer Registry
-
F
-
United States
-
-
-
yes (pedigree)
-
FAP1
no additional phenotype data available; colorectal phenotype attenuated 0 polyps
1
1
Stefan Aretz
00012527
-
Switzerland, Basel, Human Genetics, Department of Research, University Clinics
-
F
-
Switzerland
-
-
-
no (pedigree)
-
FAP1
additional phenotype data available; colorectal phenotype severe >1000 polyps; stomach and small intestinal polyps
1
1
Stefan Aretz
00012530
-
USA, Houston, Department of Cancer Biology, University of Texas
-
-
-
United States
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012540
-
Japan, Tokyo, Department of Biochemistry, Cancer Institute
-
-
-
-
-
-
-
no (pedigree)
-
FAP1
no additional phenotype data available
1
1
Stefan Aretz
00012545
-
USA, Maryland, Baltimore, The John Hopkins Hereditary Colorectal Cancer Registry
-
F
-
United States
-
-
-
yes (pedigree)
-
FAP1
additional phenotype data available; colorectal phenotype attenuated >100 polyps; duodenal polyps
1
1
Stefan Aretz
00012557
-
-
-
-
-
(Germany)
-
-
-
?
-
FAP1
?
1
1
Elke Holinski-Feder
00012571
-
-
-
-
-
(Germany)
-
-
-
?
-
FAP1
?
1
1
Elke Holinski-Feder
00012623
-
-
-
-
-
(Germany)
-
-
-
?
-
FAP1
?
1
1
Elke Holinski-Feder
00012658
-
-
-
-
-
(Germany)
-
-
-
?
-
FAP1
?
1
1
Elke Holinski-Feder
00012659
-
-
-
-
-
(Germany)
-
-
-
?
-
FAP1
?
1
1
Elke Holinski-Feder
00012662
-
-
-
-
-
(Germany)
-
-
-
?
-
FAP1
?
1
1
Elke Holinski-Feder
00012680
-
López-Villar I. et al.
-
F
-
Spain
-
-
-
?
-
FAP1
?
1
1
Isabel López Villar
00012708
-
-
-
F
-
Germany
-
-
-
yes (pedigree)
-
FAP1
no additional phenotype data available; colorectal phenotype classical, ? nr polyps
1
1
Stefan Aretz
00012711
-
-
-
M
-
Germany
-
-
-
yes (pedigree)
-
FAP1
additional phenotype data available; colectomy 36y
1
1
Stefan Aretz
00012785
-
-
-
M
-
Germany
-
-
-
yes (pedigree)
-
FAP1
additional phenotype data available; colorectal phenotype classical, expanded polyps entire colon; colon cancer 30/31y, Rectum; colectomy with Ileostoma 30y
1
1
Stefan Aretz
00012790
-
-
-
M
-
Germany
-
-
-
yes (pedigree)
-
FAP1
no dental anomalies; colorectal phenotype classical, ? nr polyps; no colon cancer ; colectomy 20y IPAA; esophago-gastro-duodenoscopy age 20y; duodenal phenotypemild
1
1
Stefan Aretz
00012807
-
-
-
F
-
Germany
-
-
-
yes (pedigree)
-
FAP1
additional phenotype data available; colorectal phenotype classical, multiple polyps distal accentuated; no colon cancer ; colectomy 24y IRA; esophago-gastro-duodenoscopy age 24/28y; duodenal phenotypenormal
1
1
Stefan Aretz
00035943
-
-
-
-
-
Germany
-
-
-
-
-
Healthy/Control
suspected ß-thalassemia
1
1
Andreas Laner
00035944
-
-
-
-
-
Germany
-
-
-
-
-
Healthy/Control
suspected ß-thalassemia
1
1
Andreas Laner
00035946
-
-
mother and sister
F
-
Germany
-
-
-
-
-
Healthy/Control
thalassemia minor; 2x colon cancer, 1x bone- and bloodcancer
1
1
Andreas Laner
00064795
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064796
-
-
-
-
-
Germany
Arab
-
-
-
-
thalbeta
ß0 phenotype
1
1
Andreas Laner
00064797
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064798
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064799
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064800
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064801
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064802
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064803
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064804
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064805
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064806
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064807
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064808
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064809
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064810
-
-
-
-
-
Germany
-
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064811
-
-
-
-
-
Germany
-
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064812
-
-
-
-
-
Germany
-
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064813
-
-
-
-
-
Germany
-
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064814
-
-
-
-
-
-
?
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064815
-
-
-
-
-
Germany
-
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064816
-
-
-
-
-
Germany
Iranian
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064817
-
-
-
-
-
Germany
Iranian
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064818
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
-
1
1
Andreas Laner
00064819
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
-
1
1
Andreas Laner
00064820
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
-
1
1
Andreas Laner
00064821
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
-
1
1
Andreas Laner
00064822
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
-
1
1
Andreas Laner
00064823
-
-
-
-
-
Germany
-
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064824
-
-
-
-
-
Germany
Iranian
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064825
-
-
-
-
-
Germany
Iranian
-
-
-
-
thalbeta
-
1
1
Andreas Laner
00064826
-
-
-
-
-
Germany
Iranian
-
-
-
-
thalbeta
-
1
1
Andreas Laner
00064827
-
-
-
-
-
Germany
Iranian
-
-
-
-
Healthy/Control
-
1
1
Andreas Laner
00064828
-
-
-
-
-
Germany
Albanian
-
-
-
-
Healthy/Control
-
1
1
Andreas Laner
00064829
-
-
father thalassemia minor
-
-
Germany
Turkish
-
-
-
-
Healthy/Control
anemia
1
1
Andreas Laner
00064830
-
-
-
-
-
Germany
-
-
-
-
-
Healthy/Control
-
1
1
Andreas Laner
00064831
-
-
-
-
-
Germany
Mediterranean
-
-
-
-
Healthy/Control
anemia, 2 miscarriages
1
1
Andreas Laner
00064832
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
-
1
1
Andreas Laner
00064833
-
-
-
-
-
Germany
-
-
-
-
-
Healthy/Control
-
1
1
Andreas Laner
00064834
-
-
-
-
-
Germany
-
-
-
-
-
Healthy/Control
-
1
1
Andreas Laner
00064835
-
-
-
-
-
Germany
-
-
-
-
-
Healthy/Control
anemia, mikrozytäre
1
1
Andreas Laner
00064836
-
-
-
-
-
Germany
Iranian
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064837
-
-
-
-
-
Germany
Iranian
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064838
-
-
-
-
-
Germany
Iranian
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064839
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064840
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064841
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064842
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064843
-
-
-
-
-
Germany
Arab
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064844
-
-
-
-
-
Germany
-
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
00064845
-
-
-
-
-
Germany
-
-
-
-
-
Healthy/Control
ß0 phenotype
1
1
Andreas Laner
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