Original source

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

Alleles
C/T|Ancestral: T|Ambiguity code: Y|MAF: 0.41 (C)
Location

Chromosome 2:48962782 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM052876

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 8 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

Genotyping chips

This variant has assays on 14 chips - Show

About this variant

This variant overlaps 5 transcripts, has 4326 sample genotypes, is associated with 3 phenotypes and is mentioned in 32 citations.

Variant displays