Original source

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

G/A | Ancestral: A | Ambiguity code: R | MAF: 0.22 (A)

Chromosome 3:171014511 (forward strand) | View in location tab


with HGMD-PUBLIC CM941277

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 13 chips - Show

About this variant

This variant overlaps 4 transcripts, has 3570 sample genotypes, is associated with 1 phenotype and is mentioned in 4 citations.

Variant displays