Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777676
rs587777676
Entrez Id: 10290;105373885
Gene Symbol: SPEG;ASIC4-AS1
SPEG;ASIC4-AS1
CUI: C4014814
Disease:
MYOPATHY, CENTRONUCLEAR, 5
0.800 GeneticVariation UNIPROT SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. 25087613 2014
dbSNP: rs587777676
rs587777676
Entrez Id: 10290;105373885
Gene Symbol: SPEG;ASIC4-AS1
SPEG;ASIC4-AS1
CUI: C4014814
Disease:
MYOPATHY, CENTRONUCLEAR, 5
T 0.800 CausalMutation CLINVAR
dbSNP: rs1050816
rs1050816
Entrez Id: 10290;105373885
Gene Symbol: SPEG;ASIC4-AS1
SPEG;ASIC4-AS1
CUI: C0017654
Disease:
Glomerular Filtration Rate
T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs907683
rs907683
Entrez Id: 10290
Gene Symbol: SPEG
SPEG
CUI: C1821417
Disease:
RESTING HEART RATE
G 0.700 GeneticVariation GWASCAT Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system. 29769521 2018
dbSNP: rs907683
rs907683
Entrez Id: 10290
Gene Symbol: SPEG
SPEG
CUI: C1821417
Disease:
RESTING HEART RATE
T 0.700 GeneticVariation GWASCAT Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. 27798624 2016
dbSNP: rs566841339
rs566841339
Entrez Id: 10290;105373885
Gene Symbol: SPEG;ASIC4-AS1
SPEG;ASIC4-AS1
CUI: C0278701
Disease:
Gastric Adenocarcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs587777672
rs587777672
Entrez Id: 10290;105373885
Gene Symbol: SPEG;ASIC4-AS1
SPEG;ASIC4-AS1
CUI: C4014814
Disease:
MYOPATHY, CENTRONUCLEAR, 5
T 0.700 CausalMutation CLINVAR
dbSNP: rs587777673
rs587777673
Entrez Id: 10290
Gene Symbol: SPEG
SPEG
CUI: C4014814
Disease:
MYOPATHY, CENTRONUCLEAR, 5
T 0.700 CausalMutation CLINVAR
dbSNP: rs587777674
rs587777674
Entrez Id: 10290
Gene Symbol: SPEG
SPEG
CUI: C4014814
Disease:
MYOPATHY, CENTRONUCLEAR, 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs587777675
rs587777675
Entrez Id: 10290
Gene Symbol: SPEG
SPEG
CUI: C4014814
Disease:
MYOPATHY, CENTRONUCLEAR, 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs757589345
rs757589345
Entrez Id: 10290
Gene Symbol: SPEG
SPEG
CUI: C0278701
Disease:
Gastric Adenocarcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs762000831
rs762000831
Entrez Id: 10290;105373885
Gene Symbol: SPEG;ASIC4-AS1
SPEG;ASIC4-AS1
CUI: C1335167
Disease:
Ovarian Mucinous Adenocarcinoma
0.700 GeneticVariation UNIPROT