Original source

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

Alleles
G/A|Ancestral: A|Ambiguity code: R|MAF: 0.43 (A)
Location

Chromosome 12:52676361 (forward strand)|View in location tab

Co-located variant

PhenCode HIFD_KRT1:c.1389C>T (G/A)

Most severe consequence
 
Synonymous variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 4 HGVS names - Show

About this variant

This variant overlaps 2 transcripts, has 2625 sample genotypes and is associated with 1 phenotype.

Variant displays