Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: < 0.01 (T)
Location

Chromosome 12:40252984 (forward strand)|View in location tab

Co-located variants
Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 3 transcripts, has 2506 sample genotypes, is associated with 1 phenotype and is mentioned in 3 citations.

Variant displays