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RHO
NM_000539:c.696+4C>T

Information

Variant Locale INTRON3
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr3:129251263:C>T
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

762/8600
European American Alternate Allele Count

304/4406
African American Alternate Allele Count
1000 Genomes
European

22/132
Utah residents, Northern and Western European ancestry

16/122
Toscani in Italia

9/136
British from England and Scotland

8/162
Finnish from Finland

14/116
Iberian populations in Spain
 
East Asian

14/146
Han Chinese in Beijing, China

4/148
Japanese in Toyko, Japan

21/180
Han Chinese South

18/146
Chinese Dai in Xishuangbanna

14/116
Iberian populations in Spain

6/148
Kinh in Ho Chi Minh City, Vietnam
West African

5/162
Yoruba in Ibadan, Nigeria

4/48
Luhya in Webuye, Kenya
 
Americas

7/98
African Ancestry in Southwest US

7/110
African Caribbean in Barbados

13/116
Mexican Ancestry in Los Angeles, CA

13/140
Puerto Rican in Puerto Rico

7/96
Colombian in Medellin, Colombia

4/94
Peruvian in Lima, Peru
South Asian

24/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/1838
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