Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906881
rs387906881
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C3279627
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC, 6
T 0.800 CausalMutation CLINVAR
dbSNP: rs141554661
rs141554661
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0036572
Disease:
Seizures
A 0.700 GeneticVariation CLINVAR
dbSNP: rs141554661
rs141554661
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C3279627
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC, 6
A 0.700 CausalMutation CLINVAR
dbSNP: rs786205887
rs786205887
Entrez Id: 7473;474170
Gene Symbol: WNT3;LRRC37A2
WNT3;LRRC37A2
CUI: C1838703
Disease:
Bladder Exstrophy and Epispadias Complex
G 0.700 GeneticVariation CLINVAR
dbSNP: rs863223401
rs863223401
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C3279627
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC, 6
C 0.700 CausalMutation CLINVAR
dbSNP: rs183211
rs183211
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
0.800 GeneticVariation GWASDB Genome-wide association study reveals genetic risk underlying Parkinson's disease. 19915575 2009
dbSNP: rs199533
rs199533
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
C 0.800 GeneticVariation GWASCAT Genome-wide association study reveals genetic risk underlying Parkinson's disease. 19915575 2009
dbSNP: rs199533
rs199533
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
T 0.800 GeneticVariation GWASDB Genome-wide association study reveals genetic risk underlying Parkinson's disease. 19915575 2009
dbSNP: rs169201
rs169201
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
0.700 GeneticVariation GWASDB Genome-wide association study reveals genetic risk underlying Parkinson's disease. 19915575 2009
dbSNP: rs7224296
rs7224296
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
0.700 GeneticVariation GWASDB Genome-wide association study reveals genetic risk underlying Parkinson's disease. 19915575 2009
dbSNP: rs197922
rs197922
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE GOSR2 Lys67Arg is associated with hypertension in whites. 19057520 2009
dbSNP: rs17608766
rs17608766
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0018803
Disease:
Heart Function Tests
C 0.800 GeneticVariation GWASCAT Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. 21076409 2010
dbSNP: rs17608766
rs17608766
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C0018803
Disease:
Heart Function Tests
C 0.800 GeneticVariation GWASDB Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. 21076409 2010
dbSNP: rs199533
rs199533
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
C 0.800 GeneticVariation GWASCAT Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. 20711177 2010
dbSNP: rs199533
rs199533
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
C 0.800 GeneticVariation GWASDB Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. 20711177 2010
dbSNP: rs2074404
rs2074404
Entrez Id: 7473;474170
Gene Symbol: WNT3;LRRC37A2
WNT3;LRRC37A2
CUI: C0007570
Disease:
Celiac Disease
0.800 GeneticVariation GWASDB Multiple common variants for celiac disease influencing immune gene expression. 20190752 2010
dbSNP: rs2074404
rs2074404
Entrez Id: 7473;474170
Gene Symbol: WNT3;LRRC37A2
WNT3;LRRC37A2
CUI: C0007570
Disease:
Celiac Disease
0.800 GeneticVariation GWASCAT Multiple common variants for celiac disease influencing immune gene expression. 20190752 2010
dbSNP: rs183211
rs183211
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
0.800 GeneticVariation GWASDB Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. 21738487 2011
dbSNP: rs183211
rs183211
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
T 0.800 GeneticVariation GWASCAT Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. 21812969 2011
dbSNP: rs183211
rs183211
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
T 0.800 GeneticVariation GWASDB Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. 21812969 2011
dbSNP: rs199533
rs199533
Entrez Id: 4905;474170
Gene Symbol: NSF;LRRC37A2
NSF;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
0.800 GeneticVariation GWASDB Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. 21738487 2011
dbSNP: rs387906881
rs387906881
Entrez Id: 9570;474170
Gene Symbol: GOSR2;LRRC37A2
GOSR2;LRRC37A2
CUI: C3279627
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC, 6
0.800 GeneticVariation UNIPROT A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 21549339 2011
dbSNP: rs415430
rs415430
Entrez Id: 7473;474170
Gene Symbol: WNT3;LRRC37A2
WNT3;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
0.800 GeneticVariation GWASDB Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. 21738487 2011
dbSNP: rs415430
rs415430
Entrez Id: 7473;474170
Gene Symbol: WNT3;LRRC37A2
WNT3;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
T 0.800 GeneticVariation GWASDB Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. 21812969 2011
dbSNP: rs415430
rs415430
Entrez Id: 7473;474170
Gene Symbol: WNT3;LRRC37A2
WNT3;LRRC37A2
CUI: C0030567
Disease:
Parkinson Disease
T 0.800 GeneticVariation GWASCAT Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. 21812969 2011