ISG15, ISG15 ubiquitin like modifier, 9636

N. diseases: 148; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1891906
rs1891906
Entrez Id: 9636
Gene Symbol: ISG15
ISG15
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs3121567
rs3121567
Entrez Id: 9636
Gene Symbol: ISG15
ISG15
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs672601312
rs672601312
Entrez Id: 9636
Gene Symbol: ISG15
ISG15
CUI: C4015293
Disease:
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 		T 0.700 CausalMutation CLINVAR
dbSNP: rs672601345
rs672601345
Entrez Id: 9636
Gene Symbol: ISG15
ISG15
CUI: C4015293
Disease:
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 		CG 0.700 CausalMutation CLINVAR
dbSNP: rs786201005
rs786201005
Entrez Id: 9636
Gene Symbol: ISG15
ISG15
CUI: C4015293
Disease:
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1921
rs1921
Entrez Id: 9636
Gene Symbol: ISG15
ISG15
CUI: C0023895
Disease:
Liver diseases 		0.010 GeneticVariation BEFREE The ISG15 rs1921 variant and ISG15 expression are associated with HBV-related liver diseases. 27626177 2016
dbSNP: rs17651
rs17651
Entrez Id: 9636
Gene Symbol: ISG15
ISG15
CUI: C0029456
Disease:
Osteoporosis 		0.010 GeneticVariation BEFREE Our results of the association of IL-1α gene single nucleotide polymorphisms (SNPs) rs2071375 (+12534G>A) and rs17651 (+4845G>T) with osteoporotic features indicate its role in pathogenesis of osteoporosis. 22868802 2012