Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

G/A | Ambiguity code: R | MAF: 0.18 (A)

Chromosome 12:52288357 (forward strand) | View in location tab


with PhenCode HIFD_KRT81:c.735+4C>T (G/A)

Most severe consequence
Evidence status

Clinical significance


LSDB KRT81:c.735+4C>T

This variation has 5 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_HumanOmni1-Quad, Illumina_HumanOmni5

About this variant

This variant overlaps 5 transcripts, has 1101 individual genotypes and is associated with 1 phenotype.

Variation displays