Original source

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

G/A/T | Ancestral: G | Ambiguity code: D | MAF: < 0.01 (T)

Chromosome 1:201364336 (forward strand) | View in location tab


with HGMD-PUBLIC CD117175, CM013440 ; dbSNP rs730881115 (G/-)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 58 HGVS names - Show

About this variant

This variant overlaps 50 transcripts, has 2504 sample genotypes and is associated with 7 phenotypes.

Variant displays