Original source

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

Alleles
A/G|Ancestral: G|Ambiguity code: R|MAF: 0.29 (A)
Location

Chromosome 1:230710048 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM920010

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 2 transcripts, has 3817 sample genotypes, is associated with 4 phenotypes and is mentioned in 41 citations.

Variant displays