Original source

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

C/A/T | Ancestral: C | Ambiguity code: H | MAF: 0.02 (T)

Chromosome 17:43115746 (forward strand) | View in location tab


with COSMIC COSM133664 (C/A) ; HGMD-PUBLIC CM041682

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 64 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_HumanOmni5, Illumina_Human1M-duo

About this variant

This variant overlaps 44 transcripts, has 1603 individual genotypes and is associated with 5 phenotypes.

Variation displays