Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.04 (A)
Location

Chromosome 12:111803962 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM870003

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 10 chips - Show

About this variant

This variant overlaps 5 transcripts, has 3473 sample genotypes, is associated with 18 phenotypes and is mentioned in 57 citations.

Variant displays