Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.37 (A)

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


with COSMIC COSM4147202 (G/A) ; PhenCode HIFD_KRT83:c.558C>T (G/A) ; dbSNP rs56040851 (C/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 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 2279 individual genotypes and is associated with 1 phenotype.

Variation displays