SP7, Sp7 transcription factor, 121340

N. diseases: 39; N. variants: 4
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: rs2016266
rs2016266 		1.000 0.080 12 53334171 intron variant G/A;C snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.800 1.000 2 2009 2012
dbSNP: rs10876432
rs10876432 		12 53338107 intron variant G/A snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.800 1.000 1 2009 2009
dbSNP: rs10876432
rs10876432 		12 53338107 intron variant G/A snv
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2012 2012
dbSNP: rs199673881
rs199673881 		12 53328577 missense variant G/A snv 2.2E-04 3.5E-05
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2016266
rs2016266 		1.000 0.080 12 53334171 intron variant G/A;C snv
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2012 2012
dbSNP: rs1565789682
rs1565789682 		1.000 12 53328496 missense variant G/A snv
CUI: C3151433
Disease: OSTEOGENESIS IMPERFECTA, TYPE XII
OSTEOGENESIS IMPERFECTA, TYPE XII 		0.700 0
dbSNP: rs2016266
rs2016266 		1.000 0.080 12 53334171 intron variant G/A;C snv
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011