Disease #01243 (ear wax dry (secretion, gland, apocrine, variation in (ear wax wet/dry, colostrum secretion, axillary odor)), OMIM:117800)

Official abbreviation	ear wax dry
Name	secretion, gland, apocrine, variation in (ear wax wet/dry, colostrum secretion, axillary odor)
OMIM ID	117800
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	50
Phenotype entries for this disease	50
Associated with 1 gene	ABCC11
Associated tissues	-
Disease features	autosomal recessive (G>A) dry ear wax type; presence or absence of axillary odor, variation in colostrum secretion
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

Legend

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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)
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(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
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Austria
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Bahrain
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Belarus
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Belgium
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Bhutan
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Botswana
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Bouvet Island
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Brazil
(Brazil)
British Indian Ocean Territory
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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
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Comoros
(Comoros)
Congo
(Congo)
Cook Islands
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Costa Rica
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Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
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Cuba
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Cyprus
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Czech Republic
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Denmark
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Dominica
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Estonia
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Ethiopia
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Faroe Islands
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Fiji
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Finland
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France
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Gabon
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Gambia
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Georgia
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Germany
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Ghana
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Gibraltar
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Grenada
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Guam
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Guatemala
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Guiana, French
(Guiana, French)
Guinea
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Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
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Honduras
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Hong Kong
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Hungary
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Iceland
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India
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Indonesia
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Iran
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Iraq
(Iraq)
Ireland
(Ireland)
Israel
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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
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Latvia
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Lebanon
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Lesotho
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Liberia
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Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Malta
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Martinique
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Mauritius
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Mayotte
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Mexico
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New Zealand
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Palau
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Panama
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Paraguay
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Peru
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Pitcairn
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Poland
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Polynesia, French
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Puerto Rico
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Qatar
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Reunion
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Romania
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Russia
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Russian Federation
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Rwanda
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(S. Georgia and S. Sandwich Isls.)
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Saint Lucia
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Saint Vincent and The Grenadines
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Samoa
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San Marino
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Sao Tome and Principe
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Saudi Arabia
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Scotland
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Senegal
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Serbia
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Seychelles
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Sierra Leone
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Singapore
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Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
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Solomon Islands
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Somalia
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Soviet Union (former)
(Soviet Union (former))
Spain
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Sri Lanka
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St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
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Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
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Svalbard and Jan Mayen Islands
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Swaziland
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Sweden
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Switzerland
(Switzerland)
Syria
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Taiwan
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Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
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Togo
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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
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Uruguay
(Uruguay)
US Minor Outlying Islands
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Uzbekistan
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Vanuatu
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Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
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Viet Nam
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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.

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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
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=""	Text	="p.0"	all entries exactly matching 'p.0'
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!	Date	!2020-03	all entries not matching March, 2020
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<=	Date	<=2020-06	all entries in or before June, 2020
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>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
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\|	Numeric	23\|24	all entries exactly matching 23 or 24
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Example	Matches
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50 entries on 1 page. Showing entries 1 - 50.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00105226	16444273-pops	PubMed: Yoshiura 2006	-	?	no	Japan	-	-	-	-	-	ear wax dry	ear wax, dry	ABCC11	ABCC11	1	87	Johan den Dunnen
00105227	16444273-EWd2	PubMed: Yoshiura 2006	2-generation family, dry ear wax mother and son	M	no	Japan	-	-	-	-	-	ear wax dry	ear wax, dry	ABCC11	ABCC11	1	1	Johan den Dunnen
00105229	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Korea	Taegu	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	99	Johan den Dunnen
00105230	16444273-pops	PubMed: Yoshiura 2006	-	-	-	China	Han, North, Shanxi	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	74	Johan den Dunnen
00105231	16444273-pops	PubMed: Yoshiura 2006	-	-	-	China	Han, North, Jingsu	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	110	Johan den Dunnen
00105232	16444273-pops	PubMed: Yoshiura 2006	-	-	-	China	Han, North	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	42	Johan den Dunnen
00105233	16444273-pops	PubMed: Yoshiura 2006	-	-	-	China	Han, South, Fujian	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	93	Johan den Dunnen
00105234	16444273-pops	PubMed: Yoshiura 2006	-	-	-	China	Han, South, Guangdong	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	76	Johan den Dunnen
00105235	16444273-pops	PubMed: Yoshiura 2006	-	-	-	China	Han, South, Hunan	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	80	Johan den Dunnen
00105236	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Mongolia	Khalkha	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	126	Johan den Dunnen
00105237	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Japan	Nagasaki	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	87	Johan den Dunnen
00105238	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Japan	Okinawa	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	30	Johan den Dunnen
00105239	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Japan	Yonakuni	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	13	Johan den Dunnen
00105240	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Japan	Hokkaido, Ainu in Nibutani	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	31	Johan den Dunnen
00105241	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Viet Nam	-	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	82	Johan den Dunnen
00105242	16444273-pops	PubMed: Yoshiura 2006	-	-	-	India	Dravidian, Tamil Nadu	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	27	Johan den Dunnen
00105243	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Thailand	North, Lahu tribe	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	25	Johan den Dunnen
00105244	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Thailand	North, Shan tribe	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	13	Johan den Dunnen
00105245	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Thailand	North, Lisu tribe	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	27	Johan den Dunnen
00105246	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Thailand	Mae-sot, Karen tribe	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	66	Johan den Dunnen
00105247	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Thailand	North, Hmong tribe	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	35	Johan den Dunnen
00105248	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Thailand	North, Akha tribe	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	25	Johan den Dunnen
00105249	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Thailand	North, Mlabri tribe	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	24	Johan den Dunnen
00105250	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Thailand	North, Urak Lawoi tribe	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	1	Johan den Dunnen
00105251	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Thailand	North, Sakai tribe	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	1	Johan den Dunnen
00105252	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Thailand	central, Bangkok	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	31	Johan den Dunnen
00105253	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Taiwan	Yami	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	22	Johan den Dunnen
00105254	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Taiwan	Ami	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	12	Johan den Dunnen
00105255	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Sri Lanka	Vedda	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	7	Johan den Dunnen
00105256	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Indonesia	Dayak, Kalimantan	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	12	Johan den Dunnen
00105257	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Indonesia	Toraja, Sulawesi	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	17	Johan den Dunnen
00105258	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Indonesia	Floresia	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	18	Johan den Dunnen
00105259	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Indonesia	Bugis, Sulawesi	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	10	Johan den Dunnen
00105260	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Indonesia	Sumban	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	9	Johan den Dunnen
00105261	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Malaysia	Borneo, north, Sabah	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	24	Johan den Dunnen
00105262	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Malaysia	Bentong	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	8	Johan den Dunnen
00105263	16444273-pops	PubMed: Yoshiura 2006	-	-	-	United States	native north American	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	6	Johan den Dunnen
00105264	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Philippines	-	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	11	Johan den Dunnen
00105265	16444273-pops	PubMed: Yoshiura 2006	-	-	-	-	East Islander	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	4	Johan den Dunnen
00105266	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Bolivia	-	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	5	Johan den Dunnen
00105267	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Kazakhstan	Kazakh	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	6	Johan den Dunnen
00105268	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Paraguay	native, Ayoreos	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	2	Johan den Dunnen
00105269	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Russian Federation	-	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	5	Johan den Dunnen
00105270	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Solomon Islands	-	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	2	Johan den Dunnen
00105271	16444273-pops	PubMed: Yoshiura 2006	-	-	-	-	Pacific islandes	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	1	Johan den Dunnen
00105272	16444273-pops	PubMed: Yoshiura 2006	-	-	-	France	-	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	1	Johan den Dunnen
00105273	16444273-pops	PubMed: Yoshiura 2006	-	-	-	-	South America, Andes	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	1	Johan den Dunnen
00105274	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Papua New Guinea	-	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	1	Johan den Dunnen
00105275	16444273-pops	PubMed: Yoshiura 2006	-	-	-	Vanuatu	Aneityum	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	1	Johan den Dunnen
00105276	16444273-pops	PubMed: Yoshiura 2006	-	-	-	United States	white	-	-	-	-	ear wax dry	ear wax (dry)	ABCC11	ABCC11	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

JAZF1-AS1 (JAZF1 antisense RNA 1)