rs387906904, 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.
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 109803009 missense variant G/A snv 0.800 1.000 11 2010 2015
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
CUI: C1838492
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
6 0.851 0.080 12 109803009 missense variant G/A snv 0.800 1.000 3 2010 2012
Neuromuscular Diseases
CUI: C0027868
Disease: Neuromuscular Diseases
50 0.851 0.080 12 109803009 missense variant G/A snv 0.700 0
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.851 0.080 12 109803009 missense variant G/A snv 0.700 0
Distal Spinal Muscular Atrophy
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
8 0.851 0.080 12 109803009 missense variant G/A snv 0.010 1.000 1 2012 2012