SEMA6A, semaphorin 6A, 57556

N. diseases: 211; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3733724
rs3733724
Entrez Id: 57556
Gene Symbol: SEMA6A
SEMA6A
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs254079
rs254079
Entrez Id: 57556
Gene Symbol: SEMA6A
SEMA6A
CUI: C0010346
Disease:
Crohn Disease 		0.700 GeneticVariation GWASDB Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394 2008
dbSNP: rs377316252
rs377316252
Entrez Id: 57556
Gene Symbol: SEMA6A
SEMA6A
CUI: C0206042
Disease:
Fatal Familial Insomnia 		0.010 GeneticVariation BEFREE Here, we measured the CSF levels of MDH1 via enzyme-linked immunosorbent assay in a cohort of rare genetic prion disease cases, such as genetic CJD (gCJD) cases, exhibiting the E200K, V210I, P102L (Gerstmann-Sträussler-Scheinker syndrome (GSS)), or D178N (fatal familial insomnia (FFI)) mutations in the <i>PRNP</i>. 31795176 2019
dbSNP: rs254215
rs254215
Entrez Id: 57556
Gene Symbol: SEMA6A
SEMA6A
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.010 GeneticVariation BEFREE Dominant model of rs254215 also was associated with T1DM (OR, 0.6; 95%CI: 0.40 to 0.96; and P=0.032). 26344020 2015