Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.15 (A)
Location

Chromosome 1:169727805 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM025889

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 7 transcripts, has 4823 sample genotypes, is associated with 2 phenotypes and is mentioned in 3 citations.

Variant displays