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: 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
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: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2008 2008
dbSNP: rs1476157710
rs1476157710 		0.925 0.040 12 48970460 missense variant T/C snv 4.1E-06 1.4E-05
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs1476157710
rs1476157710 		0.925 0.040 12 48970460 missense variant T/C snv 4.1E-06 1.4E-05
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.010 < 0.001 1 2002 2002
dbSNP: rs1476157710
rs1476157710 		0.925 0.040 12 48970460 missense variant T/C snv 4.1E-06 1.4E-05
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs35034312
rs35034312 		1.000 0.080 12 48966364 missense variant G/A snv 1.1E-02 1.2E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs553395822
rs553395822 		1.000 0.080 12 48967974 missense variant C/T snv 1.9E-04 7.0E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs61758378
rs61758378 		1.000 0.040 12 48979627 missense variant T/A snv 3.1E-03 3.7E-03
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs755253307
rs755253307 		0.925 0.120 12 48979482 missense variant T/C snv 1.2E-05 1.4E-05
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs755253307
rs755253307 		0.925 0.120 12 48979482 missense variant T/C snv 1.2E-05 1.4E-05
CUI: C2931093
Disease: Osteogenesis imperfecta, type 5
Osteogenesis imperfecta, type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 < 0.001 1 2018 2018
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: 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
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: 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
CUI: C3714945
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16
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