Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K|MAF: 0.19 (G)
Location

Chromosome 1:12192898 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM022071

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 8 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on 10 chips - Show

About this variant

This variant overlaps 5 transcripts, has 4790 sample genotypes and is mentioned in 41 citations.

Variant displays