Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
A/G | Ancestral: A | Ambiguity code: R | MAF: 0.01 (G)
Location

Chromosome 12:40346884 (forward strand) | View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

This variant has assays on 4 chips - click the plus to show

About this variant

This variant overlaps 3 transcripts, has 2541 sample genotypes, is associated with 1 phenotype and is mentioned in 2 citations.

Variant displays