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NM_004183:p.Leu37Leu

BEST1
NM_004183:c.109T>C

Information

Variant Locale EXON2
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr11:61719387:T>C
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

2663/8598
European American Alternate Allele Count

3153/4404
African American Alternate Allele Count
1000 Genomes
European

40/132
Utah residents, Northern and Western European ancestry

32/122
Toscani in Italia

37/136
British from England and Scotland

68/162
Finnish from Finland

26/116
Iberian populations in Spain
 
East Asian

138/146
Han Chinese in Beijing, China

142/148
Japanese in Toyko, Japan

162/180
Han Chinese South

118/146
Chinese Dai in Xishuangbanna

26/116
Iberian populations in Spain

128/148
Kinh in Ho Chi Minh City, Vietnam
West African

130/162
Yoruba in Ibadan, Nigeria

38/48
Luhya in Webuye, Kenya
 
Americas

74/98
African Ancestry in Southwest US

81/110
African Caribbean in Barbados

74/116
Mexican Ancestry in Los Angeles, CA

63/140
Puerto Rican in Puerto Rico

49/96
Colombian in Medellin, Colombia

75/94
Peruvian in Lima, Peru
South Asian

117/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/955
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