BMPER, BMP binding endothelial regulator, 168667

N. diseases: 75; N. variants: 12
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: rs17169634
rs17169634 		1.000 0.080 7 34054385 intron variant A/G snv 0.17
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.800 1.000 1 2014 2014
dbSNP: rs387906993
rs387906993 		1.000 0.080 7 34078887 missense variant C/T snv
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2010 2010
dbSNP: rs1554300601
rs1554300601 		1.000 0.080 7 33970336 missense variant T/A snv
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs6952495
rs6952495 		7 33914260 intron variant C/G;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs74495807
rs74495807 		1.000 0.080 7 34048923 intron variant C/T snv 9.6E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs74629737
rs74629737 		7 34053842 intron variant T/C snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs74651988
rs74651988 		1.000 0.080 7 34025530 intron variant T/A snv 9.5E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs75353220
rs75353220 		1.000 0.080 7 34054424 intron variant A/G snv 0.11
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs75733828
rs75733828 		1.000 0.080 7 34018301 intron variant T/C snv 9.6E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs79312206
rs79312206 		1.000 0.080 7 34029053 intron variant G/A snv 9.8E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs387906992
rs387906992 		1.000 0.080 7 34055301 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs387906994
rs387906994 		1.000 0.080 7 34085985 stop gained T/A snv
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0