Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R|MAF: 0.21 (G)
Location

Chromosome 3:122284922 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM044584 ; PhenCode CASRdb_c.2968A>G (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 3 transcripts, has 4118 sample genotypes, is associated with 1 phenotype and is mentioned in 20 citations.

Variant displays