Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.25 (A)
Location

Chromosome 1:115286692 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM086294

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 3 transcripts, has 3776 sample genotypes and is mentioned in 11 citations.

Variant displays