Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 12:40299125 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM043517

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ImmunoChip

About this variant

This variant overlaps 4 transcripts, has 2 sample genotypes, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays