PDF

EYS
NM_001142800:c.3444-5C>T

Information

Variant Locale INTRON22
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr6:65336143: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

720/3172
European American Alternate Allele Count

103/1384
African American Alternate Allele Count
1000 Genomes
European

12/42
Utah residents, Northern and Western European ancestry

24/64
Toscani in Italia

13/52
British from England and Scotland

2/30
Finnish from Finland

10/16
Iberian populations in Spain
 
East Asian

13/30
Han Chinese in Beijing, China

7/34
Japanese in Toyko, Japan

11/36
Han Chinese South

9/20
Chinese Dai in Xishuangbanna

10/16
Iberian populations in Spain

2/30
Kinh in Ho Chi Minh City, Vietnam
West African

(No data)
Yoruba in Ibadan, Nigeria

1/12
Luhya in Webuye, Kenya
 
Americas

(No data)
African Ancestry in Southwest US

(No data)
African Caribbean in Barbados

18/60
Mexican Ancestry in Los Angeles, CA

2/36
Puerto Rican in Puerto Rico

4/34
Colombian in Medellin, Colombia

2/20
Peruvian in Lima, Peru
South Asian

(No data)
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500.

http://vvd.eng.uiowa.edu/variant/2003
© 2011–2017 The Institute for Vision Research at The University of Iowa