rs267607148, TRPV4

N. diseases: 4
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 0.882 0.120 12 109800639 missense variant C/T snv 0.700 1.000 3 2010 2012
Spondylometaphyseal dysplasia, Kozlowski type
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
11 0.882 0.120 12 109800639 missense variant C/T snv 0.800 1.000 3 2009 2012
Neuromuscular Diseases
CUI: C0027868
Disease: Neuromuscular Diseases
50 0.882 0.120 12 109800639 missense variant C/T snv 0.700 0
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.882 0.120 12 109800639 missense variant C/T snv 0.700 0