Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | 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
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

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

About this variant

This variant overlaps 5 transcripts, has 3128 sample genotypes, is associated with 5 phenotypes and is mentioned in 12 citations.

Variant displays