ADAMTSL2, ADAMTS like 2, 9719

N. diseases: 61; N. variants: 12
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: rs387907064
rs387907064 		1.000 9 133537529 missense variant G/A snv 7.0E-06
CUI: C3278147
Disease: GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 1 		0.800 1.000 2 2008 2011
dbSNP: rs387907065
rs387907065 		0.925 0.080 9 133540980 missense variant C/T snv
CUI: C3278147
Disease: GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 1 		0.800 1.000 2 2008 2011
dbSNP: rs1395219766
rs1395219766 		1.000 9 133537464 missense variant G/C snv
CUI: C3278147
Disease: GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 1 		0.700 1.000 2 2008 2011
dbSNP: rs764516811
rs764516811 		1.000 9 133540678 missense variant G/A snv 2.0E-05 3.5E-05
CUI: C3278147
Disease: GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 1 		0.700 1.000 2 2008 2011
dbSNP: rs776178041
rs776178041 		1.000 9 133540660 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C3278147
Disease: GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 1 		0.700 1.000 2 2008 2011
dbSNP: rs113994123
rs113994123 		0.925 0.080 9 133539801 missense variant G/A snv 6.4E-06 2.2E-05
CUI: C3278147
Disease: GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 1 		0.700 1.000 1 2008 2008
dbSNP: rs113994121
rs113994121 		0.925 0.080 9 133540625 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C3278147
Disease: GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 1 		0.700 0
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: rs113994122
rs113994122 		0.925 0.080 9 133539799 missense variant G/A;T snv 1.3E-05; 1.3E-05
CUI: C3278147
Disease: GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 1 		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: rs113994124
rs113994124 		0.925 0.080 9 133570346 missense variant G/A snv
CUI: C3278147
Disease: GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 1 		0.700 0
dbSNP: rs113994125
rs113994125 		0.925 0.080 9 133570501 stop gained G/A snv
CUI: C3278147
Disease: GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 1 		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: rs761886575
rs761886575 		1.000 9 133540684 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C3278147
Disease: GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 1 		0.700 0
dbSNP: rs775621284
rs775621284 		1.000 9 133538347 splice acceptor variant A/G snv 4.0E-06
CUI: C3278147
Disease: GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 1 		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