rs1057516949, SMPD1

N. diseases: 1
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 1.000 0.160 11 6390747 frameshift variant GACT/- delins 7.1E-06 0.700 1.000 1 2015 2015