Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.02 (A)

Chromosome 20:4699875 (forward strand) | View in location tab


with HGMD-PUBLIC CM984155

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 4 transcripts, has 2506 sample genotypes, is associated with 3 phenotypes and is mentioned in 6 citations.

Variant displays