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 3:165830030 (forward strand) | View in location tab


with HGMD-PUBLIC CM062445

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 5077, 2010_April_001_019_BCHE_177400_0014

HGVS names

This variant has 9 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 5 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays