Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.03 (A)

Chromosome 2:219575104 (forward strand) | View in location tab


with HGMD-PUBLIC CM041026

Most severe consequence
Missense variant
Evidence status


This variant has 2 synonyms - Show

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 10 transcripts, has 2540 sample genotypes and is mentioned in 1 citation.

Variant displays