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NM_004183:p.Thr470Thr

BEST1
NM_004183:c.1410G>A

Information

Variant Locale EXON10
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr11:61730036:G>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

2668/8598
European American Alternate Allele Count

378/4404
African American Alternate Allele Count
1000 Genomes
European

41/132
Utah residents, Northern and Western European ancestry

48/122
Toscani in Italia

50/136
British from England and Scotland

40/162
Finnish from Finland

42/116
Iberian populations in Spain
 
East Asian

1/146
Han Chinese in Beijing, China

1/148
Japanese in Toyko, Japan

(No data)
Han Chinese South

(No data)
Chinese Dai in Xishuangbanna

42/116
Iberian populations in Spain

(No data)
Kinh in Ho Chi Minh City, Vietnam
West African

5/162
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

11/98
African Ancestry in Southwest US

10/110
African Caribbean in Barbados

19/116
Mexican Ancestry in Los Angeles, CA

28/140
Puerto Rican in Puerto Rico

20/96
Colombian in Medellin, Colombia

10/94
Peruvian in Lima, Peru
South Asian

9/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/1121
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