Original source

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

Alleles
T/A/C|Ancestral: C|Ambiguity code: H|MAF: 0.26 (T)
Location

Chromosome 12:6347896 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM994637

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature, has 2952 sample genotypes, is associated with 1 phenotype and is mentioned in 14 citations.

Variant displays