rs3793784 SNP

Most severe consequence

5 prime UTR variant

|See all predicted consequences

Alleles

G/C|Ancestral: G|Highest population MAF: 0.43

Change tolerance

GERP: 0.60

Location

Chromosome 10:49539493 (forward strand)|VCF:10 49539493 rs3793784 G C

Co-located variant

HGMD-PUBLIC CR080764

Evidence status

Clinical significance

HGVS names

This variant has 2 HGVS names - Show

Synonyms

This variant has 4 synonyms - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad

Original source

Variants (including SNPs and indels) imported from dbSNP (release 156)|View in dbSNP

About this variant

This variant has predicted consequences for 1 transcript, 1 regulatory feature, has 3009 sample genotypes, is associated with 3 phenotypes and is mentioned in 16 citations.

Description from SNPedia

rs3793784, a SNP upstream of the ERCC6 DNA repair gene, has been linked independently and in conjunction with another SNP (rs380390) to age related macular degeneration. On it's own, the odds ratios for increased risk for heterozygotes and homozygotes, were, respectively, 1.51 (CI 1.07-2.11) and 1.60 (CI 0.99-2.61). [PMID:16754848]... Show