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 1:158654738 (forward strand) | View in location tab


with HGMD-PUBLIC CM930690

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 2 transcripts, 1 regulatory feature, has 2506 sample genotypes and is associated with 2 phenotypes.

Variant displays