rs120074125, SMPD1

N. diseases: 7
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.
Niemann-Pick Disease, Type B
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
57 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.800 1.000 20 1991 2016
Niemann-Pick Disease, Type A
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
98 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.700 1.000 2 1995 2007
NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)
CUI: C2675646
Disease: NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)
2 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.700 0
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.010 1.000 1 2007 2007
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.010 1.000 1 2007 2007
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.010 1.000 1 2007 2007
Mental disorders
CUI: C0004936
Disease: Mental disorders
149 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.010 1.000 1 2007 2007