Original source

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

G/A/C | Ancestral: G | Ambiguity code: V | MAF: 0.46 (A)

Chromosome 1:16992516 (forward strand) | View in location tab


with COSMIC COSM3997075 (G/A), COSM3997076 (G/A)

Most severe consequence
Evidence status

Clinical significance


Archive dbSNP rs117976713

This variation has 12 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_HumanOmni2.5, Illumina_HumanOmni5, Illumina_Human1M-duo

About this variant

This variant overlaps 24 transcripts, has 1151 individual genotypes, is associated with 1 phenotype and is mentioned in 2 citations.

Variation displays