rs121912633, TRPV4

N. diseases: 10
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.
Brachyolmia Type 3
CUI: C0432227
Disease: Brachyolmia Type 3
3 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.800 1.000 1 2008 2008
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
13 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.700 0
Neuromuscular Diseases
CUI: C0027868
Disease: Neuromuscular Diseases
50 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.700 0
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.700 0
Asthma
CUI: C0004096
Disease: Asthma
1536 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
Brachyolmia
CUI: C0432228
Disease: Brachyolmia
3 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
Channelopathies
CUI: C1720983
Disease: Channelopathies
8 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
Childhood asthma
CUI: C0264408
Disease: Childhood asthma
317 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
Coughing
CUI: C0010200
Disease: Coughing
16 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
Wheezing
CUI: C0043144
Disease: Wheezing
54 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010