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

Chromosome 22:40364965 (forward strand) | View in location tab


with COSMIC COSM187456 (G/A), COSM187457 (G/A) ; HGMD-PUBLIC CM990123

Most severe consequence
Evidence status

Clinical significance


LSDB 15583

This variation has 15 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

This variant overlaps 14 transcripts and is associated with 2 phenotypes.

Variation displays