WNT10B, Wnt family member 10B, 7480

N. diseases: 90; N. variants: 23
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
SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2008 2008
dbSNP: rs779326570
rs779326570
1.000 12 48968025 missense variant C/T snv 2.0E-05 2.8E-05
CUI: C4310730
Disease: TOOTH AGENESIS, SELECTIVE, 8
TOOTH AGENESIS, SELECTIVE, 8
0.800 1.000 1 2016 2016
dbSNP: rs397514702
rs397514702
1.000 0.080 12 48981179 missense variant T/G snv 4.9E-05 7.0E-06
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.740 1.000 6 2013 2019
dbSNP: rs1231016571
rs1231016571
1.000 0.080 12 48966316 missense variant A/C;T snv 1.4E-05
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
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
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: C0152427
Disease: Polydactyly
Polydactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1163162816
rs1163162816
0.925 0.080 12 48968320 splice acceptor variant C/G;T snv 7.0E-06
SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555178899
rs1555178899
0.925 12 48978757 splice region variant AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- delins
CUI: C0542514
Disease: Blue sclera
Blue sclera
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555178899
rs1555178899
0.925 12 48978757 splice region variant AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- delins
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV
0.700 0
dbSNP: rs1555178899
rs1555178899
0.925 12 48978757 splice region variant AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- delins
CUI: C0426824
Disease: Beading of ribs
Beading of ribs
0.700 0
dbSNP: rs1555178899
rs1555178899
0.925 12 48978757 splice region variant AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- delins
CUI: C0086437
Disease: Joint laxity
Joint laxity
Musculoskeletal Diseases 0.700 0
dbSNP: rs387907353
rs387907353
1.000 12 48981380 splice acceptor variant -/C delins
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16
0.700 0
dbSNP: rs387907353
rs387907353
1.000 12 48981380 splice acceptor variant -/C delins
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV
0.700 0
dbSNP: rs387907354
rs387907354
1.000 12 48980693 splice region variant A/G snv
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV
0.700 0
dbSNP: rs387907355
rs387907355
1.000 12 48980630 stop gained G/A;T snv
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV
0.700 0
dbSNP: rs387907356
rs387907356
1.000 12 48981411 stop gained C/A snv
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV
0.700 0
dbSNP: rs387907357
rs387907357
1.000 12 48981472 frameshift variant -/AACA delins
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV
0.700 0
dbSNP: rs387907359
rs387907359
1.000 0.080 12 48981230 missense variant C/T snv
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16
0.700 0
dbSNP: rs387907359
rs387907359
1.000 0.080 12 48981230 missense variant C/T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs397514702
rs397514702
1.000 0.080 12 48981179 missense variant T/G snv 4.9E-05 7.0E-06
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16
0.700 0
dbSNP: rs763991433
rs763991433
1.000 0.080 12 48967981 stop gained G/A;C snv 1.2E-05
SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs766021478
rs766021478
1.000 12 48966479 stop gained C/T snv
CUI: C4310730
Disease: TOOTH AGENESIS, SELECTIVE, 8
TOOTH AGENESIS, SELECTIVE, 8
0.700 0
dbSNP: rs776938956
rs776938956
1.000 0.080 12 48967960 inframe deletion TGT/- delins
SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1033810883
rs1033810883
1.000 0.040 12 48979625 missense variant A/C snv 4.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
Mental Disorders 0.010 1.000 1 2013 2013