NOG, noggin, 9241

N. diseases: 206; N. variants: 17
Disease: SYMPHALANGISM, PROXIMAL, 1A ×
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: rs28937580
rs28937580 		0.851 0.080 17 56594326 missense variant C/G;T snv
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A 		Musculoskeletal Diseases 0.810 1.000 5 1999 2008
dbSNP: rs104894602
rs104894602 		0.925 0.080 17 56594888 missense variant A/G snv
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A 		Musculoskeletal Diseases 0.800 1.000 4 1999 2005
dbSNP: rs104894608
rs104894608 		1.000 0.040 17 56594891 missense variant C/T snv
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A 		Musculoskeletal Diseases 0.800 1.000 4 1999 2005
dbSNP: rs104894609
rs104894609 		1.000 0.040 17 56594788 missense variant G/T snv
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A 		Musculoskeletal Diseases 0.800 1.000 4 1999 2005
dbSNP: rs104894611
rs104894611 		0.925 0.080 17 56594327 missense variant C/G;T snv
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A 		Musculoskeletal Diseases 0.800 1.000 4 1999 2005
dbSNP: rs104894612
rs104894612 		0.882 0.080 17 56594774 missense variant G/A snv
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A 		Musculoskeletal Diseases 0.800 1.000 4 1999 2005
dbSNP: rs121908948
rs121908948 		1.000 0.040 17 56594887 missense variant T/C;G snv
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A 		Musculoskeletal Diseases 0.800 1.000 4 1999 2005
dbSNP: rs104894615
rs104894615 		0.925 0.080 17 56594838 missense variant G/C snv
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A 		Musculoskeletal Diseases 0.700 1.000 4 1999 2005
dbSNP: rs104894613
rs104894613 		0.882 0.040 17 56594609 stop gained T/A snv
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1567745111
rs1567745111 		1.000 0.040 17 56594822 missense variant T/C snv
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A 		Musculoskeletal Diseases 0.700 0