Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 3 HGVS names - click the plus to 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