rs267607143, TRPV4

N. diseases: 5
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.
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06 0.700 0
Neuromuscular Diseases
CUI: C0027868
Disease: Neuromuscular Diseases
50 0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06 0.700 0
Scapuloperoneal Form of Spinal Muscular Atrophy
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
5 0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06 0.700 0
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
CUI: C1838492
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
6 0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06 0.700 0
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
13 0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06 0.800 1.000 11 2005 2014