Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A|Ancestral: A|Ambiguity code: R|MAF: 0.13 (A)
Location

Chromosome 7:30969071 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM005494

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 10 transcripts, has 3361 sample genotypes, is associated with 2 phenotypes and is mentioned in 9 citations.

Variant displays