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: rs1554520924
rs1554520924
8 22417825 missense variant T/G snv
CUI: C1840404
Disease: Hyperostosis Cranialis Interna
Hyperostosis Cranialis Interna
Musculoskeletal Diseases 0.700 1.000 1 2018 2018