Original source

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

A/G | Ancestral: A | Ambiguity code: R | MAF: 0.02 (G)

Chromosome 1:236751623 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status

Clinical significance


Uniprot VAR_033487

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 5 transcripts, has 2814 sample genotypes and is associated with 1 phenotype.

Variant displays