Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.30 (G)

Chromosome 17:40819076 (forward strand) | View in location tab


with PhenCode HIFD_KRT10:c.1459C>T (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature, has 2507 sample genotypes and is associated with 1 phenotype.

Variant displays