Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.36 (A)

Chromosome 12:52319191 (forward strand) | View in location tab


with COSMIC COSM4147202 (G/A) ; PhenCode HIFD_KRT83:c.558C>T (G/A)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 2 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Affy GenomeWideSNP_6.0

About this variant

This variant overlaps 2 transcripts, has 3688 individual genotypes and is associated with 1 phenotype.

Variation displays