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 9:136508238 (forward strand) | View in location tab


with HGMD-PUBLIC CM053346

Most severe consequence
Evidence status

Clinical significance


LSDB 5810

This variation has 3 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_HumanOmni1-Quad

About this variant

This variant overlaps 2 transcripts, has 2 individual genotypes and is associated with 2 phenotypes.

Variation displays