Original source

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

Alleles
G/A|Ancestral: A|Ambiguity code: R|MAF: 0.03 (G)
Location

Chromosome 12:40225280 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, has 3452 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays