Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.04 (A)
Location

Chromosome 12:109814742 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM094852

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 19 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Cardio-Metabo_Chip, Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 9 transcripts, has 2807 sample genotypes, is associated with 3 phenotypes and is mentioned in 3 citations.

Variant displays