ADAMTSL2, ADAMTS like 2, 9719

N. diseases: 61; N. variants: 12
Disease: Geleophysic dysplasia ×
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: rs113994121
rs113994121 		0.925 0.080 9 133540625 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs113994122
rs113994122 		0.925 0.080 9 133539799 missense variant G/A;T snv 1.3E-05; 1.3E-05
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs113994123
rs113994123 		0.925 0.080 9 133539801 missense variant G/A snv 6.4E-06 2.2E-05
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs113994124
rs113994124 		0.925 0.080 9 133570346 missense variant G/A snv
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs113994125
rs113994125 		0.925 0.080 9 133570501 stop gained G/A snv
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs387907065
rs387907065 		0.925 0.080 9 133540980 missense variant C/T snv
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2010 2010