rs397514494, TRPV4

N. diseases: 3
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 0.925 0.080 12 109808298 missense variant C/T snv 0.700 1.000 3 2012 2016
Neuromuscular Diseases
CUI: C0027868
Disease: Neuromuscular Diseases
50 0.925 0.080 12 109808298 missense variant C/T snv 0.700 0
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
CUI: C1838492
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
6 0.925 0.080 12 109808298 missense variant C/T snv 0.700 0