Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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 4 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to 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