Original source

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

Alleles
G/A | Ancestral: A | Ambiguity code: R | MAF: 0.03 (G)
Location

Chromosome 12:40225280 (forward strand) | View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

This variant has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, has 3452 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays