Original source

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

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

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


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

Most severe consequence
Synonymous variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 3 HGVS names - click the plus to show

About this variant

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

Variant displays