Original source

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

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

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

Co-located variant

HGMD-PUBLIC CM073274

Most severe consequence
 
Missense variant
Evidence status

Synonyms

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