Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R|MAF: 0.01 (G)
Location

Chromosome 12:6349184 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM051983

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 10 transcripts, has 3426 sample genotypes, is associated with 3 phenotypes and is mentioned in 6 citations.

Variant displays