NOG, noggin, 9241

N. diseases: 206; N. variants: 17
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: rs121908949
rs121908949
1.000 0.080 17 56594722 missense variant C/G snv
CUI: C1969652
Disease: BRACHYDACTYLY, TYPE B2 (disorder)
BRACHYDACTYLY, TYPE B2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 2 2007 2014
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: rs104894603
rs104894603
1.000 0.080 17 56594872 missense variant T/G snv
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 1999 2010
dbSNP: rs387906844
rs387906844
1.000 0.080 17 56594919 missense variant C/G;T snv 1.1E-05
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 1999 2010
dbSNP: rs104894602
rs104894602
0.925 0.080 17 56594888 missense variant A/G snv
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2002 2002
dbSNP: rs104894610
rs104894610
1.000 0.080 17 56594834 missense variant G/A;T snv
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2002 2002
dbSNP: rs104894611
rs104894611
0.925 0.080 17 56594327 missense variant C/G;T snv
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2002 2002
dbSNP: rs28937580
rs28937580
0.851 0.080 17 56594326 missense variant C/G;T snv
CUI: C1969652
Disease: BRACHYDACTYLY, TYPE B2 (disorder)
BRACHYDACTYLY, TYPE B2 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2007 2007
dbSNP: rs28937580
rs28937580
0.851 0.080 17 56594326 missense variant C/G;T snv
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2008 2008
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: rs104894614
rs104894614
1.000 0.080 17 56594551 stop gained C/T snv
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs104894615
rs104894615
0.925 0.080 17 56594838 missense variant G/C snv
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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
dbSNP: rs1567745119
rs1567745119
1.000 0.080 17 56594837 stop gained G/A snv
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs104894612
rs104894612
0.882 0.080 17 56594774 missense variant G/A snv
CUI: C0039075
Disease: Syndactyly
Syndactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2001 2001
dbSNP: rs104894612
rs104894612
0.882 0.080 17 56594774 missense variant G/A snv
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome
Musculoskeletal Diseases 0.010 1.000 1 2001 2001
dbSNP: rs104894613
rs104894613
0.882 0.040 17 56594609 stop gained T/A snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2001 2001
dbSNP: rs104894613
rs104894613
0.882 0.040 17 56594609 stop gained T/A snv
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome
Musculoskeletal Diseases 0.010 1.000 1 2001 2001