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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs387907359
rs387907359 		1.000 0.080 12 48981230 missense variant C/T snv
CUI: C3714945
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16
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
CUI: C3714945
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16
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
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: 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