Variant Locale EXON1
PubMed ID (no data)
dbSNP ID (no data)


Variation chr3:129247782:G>A
Pathogenicity Possible low penetrance allele


In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Damaging Probably Damaging Deleterious Disease Causing Conserved Conserved
0 1 0 0.999924 2.609 5.52

Variant Frequencies


(No data)
Alternate Allele Count
Exome Variant Server

European American Alternate Allele Count

African American Alternate Allele Count
1000 Genomes

(No data)
Utah residents, Northern and Western European ancestry

(No data)
Toscani in Italia

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British from England and Scotland

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Finnish from Finland

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Iberian populations in Spain
East Asian

Han Chinese in Beijing, China

(No data)
Japanese in Toyko, Japan

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Han Chinese South

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Chinese Dai in Xishuangbanna

(No data)
Iberian populations in Spain

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Kinh in Ho Chi Minh City, Vietnam
West African

(No data)
Yoruba in Ibadan, Nigeria

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Luhya in Webuye, Kenya

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African Ancestry in Southwest US

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African Caribbean in Barbados

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Mexican Ancestry in Los Angeles, CA

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Puerto Rican in Puerto Rico

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Colombian in Medellin, Colombia

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Peruvian in Lima, Peru
South Asian

(No data)
Gujarati Indian in Houston, TX

Published Data

Manual curation in progress. Record generated from: ESP6500, dbNSFP 2. Additional info from dbNSFP 2 -- Gene full name: rhodopsin | Function description: Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change leading to G-protein activation and release of all-trans retinal. | Disease description: Defects in RHO are the cause of congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]; also known as rhodopsin-related congenital stationary night blindness. Congenital stationary night blindness is a non- progressive retinal disorder characterized by impaired night vision.

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