Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R|MAF: 0.02 (G)
Location

Chromosome 1:236751623 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_033487

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 5 transcripts, has 2814 sample genotypes and is associated with 2 phenotypes.

Variant displays