WNT10B, Wnt family member 10B, 7480

N. diseases: 90; N. variants: 23
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder) ×
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: rs121918349
rs121918349 		0.925 0.120 12 48966271 missense variant G/A;C;T snv 8.0E-06; 4.0E-06; 4.0E-06
CUI: C2749665
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2008 2008
dbSNP: rs1231016571
rs1231016571 		1.000 0.080 12 48966316 missense variant A/C;T snv 1.4E-05
CUI: C2749665
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1555177994
rs1555177994 		1.000 0.080 12 48966448 frameshift variant C/-;CC delins
CUI: C2749665
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1565715468
rs1565715468 		1.000 0.080 12 48966519 missense variant C/A snv
CUI: C2749665
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1163162816
rs1163162816 		0.925 0.080 12 48968320 splice acceptor variant C/G;T snv 7.0E-06
CUI: C2749665
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs763991433
rs763991433 		1.000 0.080 12 48967981 stop gained G/A;C snv 1.2E-05
CUI: C2749665
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs776938956
rs776938956 		1.000 0.080 12 48967960 inframe deletion TGT/- delins
CUI: C2749665
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0