rs183393610

This is a intron variant variant in the BID gene.

GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

BH3-interacting domain death agonist measurement

Allele A
OR 0.35
p 6.0e-19
N 47,745
Large GWAS
European

platelet count

Allele A
OR 0.09
p 1.0e-14
N 394,642
Large GWAS
European
Allele A
OR
p 4.0e-12
N 721,201
Large GWAS
multi-ancestry
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.10
p 1.0e-10
N 408,112
Large GWAS
European

platelet crit

Allele A
OR 0.08
p 1.0e-13
N 394,642
Large GWAS
European
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.10
p 3.0e-11
N 408,112
Large GWAS
European

About BID

This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2, and thus regulate apoptosis. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Aug 2020]

View all BID variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…