Original source

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

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

Chromosome 1:113834946 (forward strand) | View in location tab


with HGMD-PUBLIC CM041826

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 8 transcripts, has 3674 sample genotypes, is associated with 25 phenotypes and is mentioned in 375 citations.

Variant displays