Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.22 (A)
Location

Chromosome 14:103699416 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM003625

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 8 synonyms - Show

HGVS names

This variant has 21 HGVS names - Show

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 23 transcripts, has 3821 sample genotypes, is associated with 2 phenotypes and is mentioned in 108 citations.

Variant displays