Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.36 (T)
Location

Chromosome 2:162267541 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM066881

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 3 HGVS names - Hide

2:g.162267541C>T
ENST00000263642.2:c.2836G>A
ENSP00000263642.2:p.Ala946Thr

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 1 transcript, has 3714 sample genotypes, is associated with 4 phenotypes and is mentioned in 83 citations.

Variant displays