Original source

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

A/G | Ancestral: A | Ambiguity code: R | MAF: 0.01 (G)

Chromosome 8:19956018 (forward strand) | View in location tab


with HGMD-PUBLIC CM950785, CD992521

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

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

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12, Illumina_Human1M-duo

About this variant

This variant overlaps 5 transcripts, has 1716 individual genotypes, is associated with 5 phenotypes and is mentioned in 12 citations.

Variation displays