Original source

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

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

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

Co-located variant

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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