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: rs387906905
rs387906905 		0.882 0.120 12 109798819 missense variant C/T snv
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 10 2010 2014
dbSNP: rs121912632
rs121912632 		0.882 0.080 12 109792407 missense variant C/T snv
CUI: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 2 2008 2014
dbSNP: rs267607146
rs267607146 		0.851 0.080 12 109800666 missense variant G/A;T snv 7.0E-06
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 15 2010 2017
dbSNP: rs267607144
rs267607144 		0.716 0.360 12 109800665 missense variant C/T snv
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 12 2010 2015
dbSNP: rs267607143
rs267607143 		0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 11 2005 2014
dbSNP: rs387906904
rs387906904 		0.851 0.080 12 109803009 missense variant G/A snv
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 11 2010 2015
dbSNP: rs267607145
rs267607145 		0.882 0.080 12 109798820 missense variant G/A;T snv
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 10 2010 2014
dbSNP: rs387906902
rs387906902 		0.925 0.080 12 109793560 missense variant G/C;T snv 4.0E-06
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 7 2010 2014
dbSNP: rs121912636
rs121912636 		0.925 0.120 12 109798775 missense variant T/A;C snv 4.0E-06
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 5 2009 2015
dbSNP: rs121912637
rs121912637 		0.851 0.160 12 109784378 missense variant G/A;C snv
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 5 2009 2015
dbSNP: rs267607147
rs267607147 		0.925 0.120 12 109784379 missense variant G/A;C snv
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 5 2009 2015
dbSNP: rs267607149
rs267607149 		0.851 0.120 12 109784385 missense variant C/T snv
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 5 2009 2015
dbSNP: rs387906903
rs387906903 		0.925 0.120 12 109803113 missense variant T/C snv
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 5 2009 2015
dbSNP: rs397514473
rs397514473 		0.925 0.120 12 109814531 missense variant G/A snv
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 5 2009 2015
dbSNP: rs515726163
rs515726163 		0.925 0.120 12 109792401 missense variant A/G snv
CUI: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 5 2009 2015
dbSNP: rs121912634
rs121912634 		0.925 0.080 12 109798768 missense variant T/C snv
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2009 2012
dbSNP: rs121912635
rs121912635 		0.925 0.080 12 109788462 missense variant C/A snv
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2009 2012
dbSNP: rs267607144
rs267607144 		0.716 0.360 12 109800665 missense variant C/T snv
CUI: C1838492
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder) 		Nervous System Diseases 0.800 1.000 3 2010 2012
dbSNP: rs267607148
rs267607148 		0.882 0.120 12 109800639 missense variant C/T snv
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2009 2012
dbSNP: rs267607149
rs267607149 		0.851 0.120 12 109784385 missense variant C/T snv
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2009 2012
dbSNP: rs387906904
rs387906904 		0.851 0.080 12 109803009 missense variant G/A snv
CUI: C1838492
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder) 		Nervous System Diseases 0.800 1.000 3 2010 2012
dbSNP: rs77975504
rs77975504 		0.827 0.280 12 109792695 missense variant C/T snv
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2009 2012
dbSNP: rs267607145
rs267607145 		0.882 0.080 12 109798820 missense variant G/A;T snv
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		Nervous System Diseases 0.800 1.000 2 2010 2012
dbSNP: rs121912633
rs121912633 		0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06
CUI: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2008 2008
dbSNP: rs387907219
rs387907219 		1.000 0.080 12 109800659 missense variant C/G;T snv 1.6E-05
CUI: C1847406
Disease: Digital Arthropathy-Brachydactyly, Familial
Digital Arthropathy-Brachydactyly, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2011 2011