Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K | MAF: 0.37 (G)
Location

Chromosome 12:68808800 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CR043384

Most severe consequence
 
Intron variant
Evidence status

Clinical significance

This variant has 9 HGVS names - click the plus to show

12:g.68808800T>G
ENST00000393412.7:c.-5+309T>G
ENST00000258149.9:c.14+309T>G
ENST00000258148.11:c.14+309T>G
ENST00000462284.5:c.-5+309T>G
ENST00000311420.13:c.14+309T>G
ENST00000493419.1:n.210+309T>G
ENST00000393417.7:c.-5+309T>G
ENST00000428863.6:c.-5+309T>G

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad

About this variant

This variant overlaps 33 transcripts, 1 regulatory feature, has 2515 sample genotypes, is associated with 2 phenotypes and is mentioned in 128 citations.

Variant displays