rs78835388
This is a intron variant variant in the THSD7A gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
response to anticonvulsant
▶Research that mentions this SNP (1)
▶Mood‐Stabilizing Antiepileptic Treatment Response in Bipolar Disorder: A Genome‐Wide Association StudyAssociationN=199Ada Man‐Choi Ho et al.(2020)· Clinical Pharmacology & Therapeutics
A genome-wide association study of 199 bipolar disorder patients identified two genome-wide significant SNP signals: rs78835388 in THSD7A (P = 7.1E-09) and rs114872993 in SLC35F3 (P = 3.2E-08) associated with mood-stabilizing antiepileptic drug (AED-MS) treatment response. Gene-level analysis also identified significant associations in ABCC1 (top SNP rs875740, P = 2.0E-6) and DISP1 (top SNP rs34701716, P = 8.9E-07). The findings suggest potential genetic markers for predicting AED-MS response in bipolar disorder treatment.
About THSD7A
The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]
View all THSD7A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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