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: 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
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
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