Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.03 (A)
Location

Chromosome 12:52680274 (forward strand)|View in location tab

Co-located variant

PhenCode HIFD_KRT1:c.75C>T (G/A)

Most severe consequence
 
Synonymous variant
Evidence status

Clinical significance

Synonyms

LSDB KRT1:c.75C>T

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad, Illumina_HumanOmni5

About this variant

This variant overlaps 2 transcripts, has 2813 sample genotypes and is associated with 1 phenotype.

Variant displays