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: 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: 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: 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: 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