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EYS
NM_198283:c.1300-3C>T

Information

Variant Locale INTRON7
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr6:66063513:G>A
Pathogenicity
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Unknown Unknown Unknown Unknown Unknown Unknown

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

5838/8600
European American Alternate Allele Count

3025/4406
African American Alternate Allele Count
1000 Genomes
European

85/132
Utah residents, Northern and Western European ancestry

79/122
Toscani in Italia

92/136
British from England and Scotland

100/162
Finnish from Finland

72/116
Iberian populations in Spain
 
East Asian

91/146
Han Chinese in Beijing, China

85/148
Japanese in Toyko, Japan

113/180
Han Chinese South

94/146
Chinese Dai in Xishuangbanna

72/116
Iberian populations in Spain

90/148
Kinh in Ho Chi Minh City, Vietnam
West African

111/162
Yoruba in Ibadan, Nigeria

29/48
Luhya in Webuye, Kenya
 
Americas

71/98
African Ancestry in Southwest US

71/110
African Caribbean in Barbados

74/116
Mexican Ancestry in Los Angeles, CA

91/140
Puerto Rican in Puerto Rico

63/96
Colombian in Medellin, Colombia

50/94
Peruvian in Lima, Peru
South Asian

104/154
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes.

http://vvd.eng.uiowa.edu/variant/2006
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