rs200763423, SMPD1

N. diseases: 2
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 A
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
98 0.925 0.160 11 6391807 stop gained G/A;C;T snv 4.0E-06 0.800 1.000 18 1991 2016
Niemann-Pick Disease, Type B
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
57 0.925 0.160 11 6391807 stop gained G/A;C;T snv 4.0E-06 0.700 1.000 20 1991 2016