rs587777383, ACTG2

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.
Visceral Myopathy
CUI: C0042781
Disease: Visceral Myopathy
19 0.882 0.040 2 73909130 missense variant C/A;T snv 4.0E-06 0.800 1.000 4 2012 2014
Chronic intestinal pseudo-obstruction
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
10 0.882 0.040 2 73909130 missense variant C/A;T snv 4.0E-06 0.700 1.000 4 2014 2016
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.882 0.040 2 73909130 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
Visceral Myopathy, Familial
CUI: C0266833
Disease: Visceral Myopathy, Familial
1 0.882 0.040 2 73909130 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2012 2012