Original source

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

A/C/G | Ancestral: A | Ambiguity code: V | MAF: < 0.01 (G)

Chromosome 17:39723332 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 54 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 32 transcripts, has 2506 sample genotypes, is associated with 3 phenotypes and is mentioned in 3 citations.

Variant displays