Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777383
rs587777383
ACTG2
0.882 0.040 2 73909130 missense variant C/A;T snv 4.0E-06
CUI: C0266833
Disease: Visceral Myopathy, Familial
Visceral Myopathy, Familial 		0.010 1.000 1 2012 2012
dbSNP: rs587777383
rs587777383
ACTG2
0.882 0.040 2 73909130 missense variant C/A;T snv 4.0E-06
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.010 1.000 1 2014 2014
dbSNP: rs78001248
rs78001248
ACTG2
0.925 0.080 2 73913565 missense variant C/T snv
CUI: C1608393
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs797044959
rs797044959
ACTG2
0.925 0.080 2 73914836 missense variant G/A snv
CUI: C1608393
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome 		0.010 1.000 1 2015 2015