Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

C/G | Ancestral: C | Ambiguity code: S | MAF: 0.09 (G)

Chromosome 8:19962213 (forward strand) | View in location tab


with HGMD-PUBLIC CM900164

Most severe consequence
Stop gained
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

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

This variant has assays on 6 chips - click the plus to show

About this variant

This variant overlaps 1 transcript, 1 regulatory feature, has 2507 sample genotypes, is associated with 8 phenotypes and is mentioned in 47 citations.

Variant displays