ISG15, ISG15 ubiquitin like modifier, 9636

N. diseases: 148; N. variants: 7
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1891906
rs1891906
1 1014863 upstream gene variant A/C snv 0.36
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs3121567
rs3121567
1 1008088 non coding transcript exon variant T/C snv 0.88
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs672601312
rs672601312
1.000 1 1014359 stop gained G/A;T snv 4.0E-06; 8.0E-06
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
0.700 0
dbSNP: rs672601345
rs672601345
1.000 1 1014316 frameshift variant -/G delins
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
0.700 0
dbSNP: rs786201005
rs786201005
1.000 1 1014143 stop gained C/T snv
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
0.700 0
dbSNP: rs17651
rs17651
1.000 0.080 1 1014228 missense variant G/A;C snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1921
rs1921
1 1014228 missense variant G/A;C snv 0.36
CUI: C0023895
Disease: Liver diseases
Liver diseases
Digestive System Diseases 0.010 1.000 1 2016 2016