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NM_004183:p.Ile73Ile

BEST1
NM_004183:c.219C>A

Information

Variant Locale EXON3
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr11:61722645:C>A
Pathogenicity Benign
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

629/8598
European American Alternate Allele Count

366/4404
African American Alternate Allele Count
1000 Genomes
European

5/132
Utah residents, Northern and Western European ancestry

8/122
Toscani in Italia

17/136
British from England and Scotland

11/162
Finnish from Finland

5/116
Iberian populations in Spain
 
East Asian

101/146
Han Chinese in Beijing, China

124/148
Japanese in Toyko, Japan

112/180
Han Chinese South

64/146
Chinese Dai in Xishuangbanna

5/116
Iberian populations in Spain

96/148
Kinh in Ho Chi Minh City, Vietnam
West African

24/162
Yoruba in Ibadan, Nigeria

5/48
Luhya in Webuye, Kenya
 
Americas

7/98
African Ancestry in Southwest US

11/110
African Caribbean in Barbados

38/116
Mexican Ancestry in Los Angeles, CA

28/140
Puerto Rican in Puerto Rico

17/96
Colombian in Medellin, Colombia

36/94
Peruvian in Lima, Peru
South Asian

86/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/967
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