rs267607144, TRPV4

N. diseases: 17
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
13 0.716 0.360 12 109800665 missense variant C/T snv 0.800 1.000 12 2010 2015
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
CUI: C1838492
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
6 0.716 0.360 12 109800665 missense variant C/T snv 0.800 1.000 3 2010 2012
Scapuloperoneal Form of Spinal Muscular Atrophy
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
5 0.716 0.360 12 109800665 missense variant C/T snv 0.710 1.000 1 2017 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.716 0.360 12 109800665 missense variant C/T snv 0.700 1.000 24 1976 2017
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.716 0.360 12 109800665 missense variant C/T snv 0.700 1.000 4 2010 2014
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.716 0.360 12 109800665 missense variant C/T snv 0.700 1.000 4 2010 2014
Vocal Cord Paralysis
CUI: C0042928
Disease: Vocal Cord Paralysis
3 0.716 0.360 12 109800665 missense variant C/T snv 0.700 1.000 4 2010 2014
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
CUI: C4479260
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
1 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0
Brachyolmia Type 3
CUI: C0432227
Disease: Brachyolmia Type 3
3 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0
Digital Arthropathy-Brachydactyly, Familial
CUI: C1847406
Disease: Digital Arthropathy-Brachydactyly, Familial
4 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0
Metatropic dwarfism
CUI: C0265281
Disease: Metatropic dwarfism
19 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0
Neuromuscular Diseases
CUI: C0027868
Disease: Neuromuscular Diseases
50 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0
Parastremmatic dwarfism
CUI: C1868616
Disease: Parastremmatic dwarfism
2 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
CUI: C3150755
Disease: SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
1 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
CUI: C3159322
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
5 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0
Spondylometaphyseal dysplasia, Kozlowski type
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
11 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0