SSUH2, ssu-2 homolog, 51066

N. diseases: 7; N. variants: 35
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893714
rs104893714
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C2678485
Disease:
LONG QT SYNDROME 9 (disorder)
G 0.820 SusceptibilityMutation CLINVAR
dbSNP: rs104893713
rs104893713
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C2678485
Disease:
LONG QT SYNDROME 9 (disorder)
G 0.800 CausalMutation CLINVAR
dbSNP: rs104893715
rs104893715
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C2678485
Disease:
LONG QT SYNDROME 9 (disorder)
A 0.800 CausalMutation CLINVAR
dbSNP: rs116840773
rs116840773
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs116840773
rs116840773
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C0241005
Disease:
Creatine phosphokinase serum increased
A 0.800 CausalMutation CLINVAR
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C0241005
Disease:
Creatine phosphokinase serum increased
0.800 GeneticVariation UNIPROT
dbSNP: rs116840782
rs116840782
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder)
A 0.800 CausalMutation CLINVAR
dbSNP: rs116840782
rs116840782
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs116840786
rs116840786
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C0241005
Disease:
Creatine phosphokinase serum increased
0.800 GeneticVariation UNIPROT
dbSNP: rs116840786
rs116840786
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C0241005
Disease:
Creatine phosphokinase serum increased
T 0.800 CausalMutation CLINVAR
dbSNP: rs116840789
rs116840789
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder)
A 0.800 CausalMutation CLINVAR
dbSNP: rs116840789
rs116840789
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs116840805
rs116840805
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs121909282
rs121909282
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C2678485
Disease:
LONG QT SYNDROME 9 (disorder)
G 0.800 CausalMutation CLINVAR
dbSNP: rs72546668
rs72546668
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C2678485
Disease:
LONG QT SYNDROME 9 (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs72546668
rs72546668
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C2678485
Disease:
LONG QT SYNDROME 9 (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs1008642
rs1008642
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder)
0.700 GeneticVariation UNIPROT
dbSNP: rs1008642
rs1008642
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C3280443
Disease:
MYOPATHY, DISTAL, TATEYAMA TYPE
G 0.700 CausalMutation CLINVAR
dbSNP: rs1060502318
rs1060502318
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C0023976
Disease:
Long QT Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs116840778
rs116840778
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C3280443
Disease:
MYOPATHY, DISTAL, TATEYAMA TYPE
A 0.700 CausalMutation CLINVAR
dbSNP: rs116840788
rs116840788
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder)
0.700 GeneticVariation UNIPROT
dbSNP: rs116840789
rs116840789
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C0241005
Disease:
Creatine phosphokinase serum increased
A 0.700 CausalMutation CLINVAR
dbSNP: rs116840793
rs116840793
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1832560
Disease:
RIPPLING MUSCLE DISEASE 2 (disorder)
A 0.700 CausalMutation CLINVAR