Original source

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

G/T | Ancestral: G | Ambiguity code: K | MAF: 0.01 (T)

Chromosome 1:43338136 (forward strand) | View in location tab


with HGMD-PUBLIC CM042087

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 4 transcripts, has 3381 sample genotypes and is associated with 3 phenotypes.

Variant displays