Original source

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

T/A | Ancestral: T | Ambiguity code: W | MAF: 0.01 (A)

Chromosome 17:39526122 (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 9 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 5 transcripts, has 2543 sample genotypes and is associated with 1 phenotype.

Variant displays