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: rs762472005
rs762472005
0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
Nervous System Diseases 0.020 1.000 2 2013 2016
dbSNP: rs762472005
rs762472005
0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0854193
Disease: Cognitive deterioration
Cognitive deterioration
0.010 1.000 1 2013 2013
dbSNP: rs762472005
rs762472005
0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs762472005
rs762472005
0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs762472005
rs762472005
0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
Nervous System Diseases 0.010 1.000 1 2016 2016