Original source

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

C/A | Ancestral: A | Ambiguity code: M | MAF: 0.33 (C)

Chromosome 4:38797027 (forward strand) | View in location tab


with COSMIC COSM3760608 (C/A) ; HGMD-PUBLIC CM073378 ; dbSNP rs76798247 (G/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 6 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts, has 1148 individual genotypes, is associated with 2 phenotypes and is mentioned in 29 citations.

Variation displays