rs387906902, 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 109793560 missense variant G/C;T snv 4.0E-06 0.800 1.000 7 2010 2014
Neuromuscular Diseases
CUI: C0027868
Disease: Neuromuscular Diseases
50 0.925 0.080 12 109793560 missense variant G/C;T snv 4.0E-06 0.700 0
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.925 0.080 12 109793560 missense variant G/C;T snv 4.0E-06 0.700 0