Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.13 (T)
Location

Chromosome 17:40822210 (forward strand)|View in location tab

Co-located variant

PhenCode HIFD_KRT10:c.376G>A (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 5 transcripts, has 2505 sample genotypes and is associated with 1 phenotype.

Variant displays