SMPD3, sphingomyelin phosphodiesterase 3, 55512

N. diseases: 50; N. variants: 8
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: rs117968336
rs117968336
16 68361468 3 prime UTR variant G/A snv 6.4E-03
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs1364344
rs1364344
16 68399142 intron variant T/A;C snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019