Disease: Hyperphosphatasemia with bone disease ×
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: rs104894091
rs104894091 		1.000 0.040 8 118933071 missense variant C/T snv
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		Musculoskeletal Diseases 0.700 0
dbSNP: rs104894092
rs104894092 		1.000 0.040 8 118932982 missense variant A/G snv 2.8E-05
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		Musculoskeletal Diseases 0.700 0
dbSNP: rs200071478
rs200071478 		1.000 0.040 8 118933105 missense variant T/C;G snv
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		Musculoskeletal Diseases 0.700 0
dbSNP: rs796051868
rs796051868 		1.000 0.040 8 118928784 inframe deletion CGT/- delins
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		Musculoskeletal Diseases 0.700 0