Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K | MAF: < 0.01 (T)
Location

Chromosome 12:40284011 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM056640

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

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

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_ImmunoChip, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, has 2506 individual genotypes, is associated with 1 phenotype and is mentioned in 2 citations.

Variation displays