Original source

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

A/G | Ancestral: A | Ambiguity code: R | MAF: < 0.01 (G)

Chromosome 1:12194602 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_017180

HGVS names

This variant has 4 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 5 transcripts and has 2930 sample genotypes.

Variant displays