rs762472005, SACM1L

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06 0.020 1.000 2 2013 2016
Cognitive deterioration
CUI: C0854193
Disease: Cognitive deterioration
3 0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2013 2013
Drug Resistant Epilepsy
CUI: C1096063
Disease: Drug Resistant Epilepsy
35 0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2016 2016
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2017 2017
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
37 0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2016 2016