SGMS2, sphingomyelin synthase 2, 166929

N. diseases: 45; N. variants: 1
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: rs1560667389
rs1560667389 		1.000 0.040 4 107895701 stop gained C/T snv
CUI: C1852022
Disease: Doughnut Lesions of Skull, Familial
Doughnut Lesions of Skull, Familial 		Musculoskeletal Diseases 0.700 0