SERPINH1, serpin family H member 1, 871

N. diseases: 148; N. variants: 8
Disease: OSTEOGENESIS IMPERFECTA, TYPE X ×
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: rs137853892
rs137853892 		0.925 0.120 11 75566582 missense variant T/C snv
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		0.800 1.000 1 2010 2010
dbSNP: rs1565244847
rs1565244847 		1.000 11 75572058 frameshift variant -/T delins
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		0.700 0
dbSNP: rs886039819
rs886039819 		1.000 11 75568818 missense variant T/C snv
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		0.700 0