Original source

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

G/C | Ancestral: G | Ambiguity code: S | MAF: 0.48 (C)

Chromosome 8:127416578 (forward strand) | View in location tab


with HGMD-PUBLIC CM073274

Most severe consequence
Missense variant
Evidence status


This variant has 5 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, has 2544 sample genotypes and is mentioned in 3 citations.

Variant displays