Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 12:40321114 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM043519

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

Genotyping chips

This variant has assays on: Illumina_ImmunoChip

About this variant

This variant overlaps 4 transcripts, has 1 sample genotype, is associated with 3 phenotypes and is mentioned in 4 citations.

Variant displays