ACTG2, actin gamma 2, smooth muscle, 72

N. diseases: 6; N. variants: 17
Disease: Visceral Myopathy ×
Source: CURATED ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777384
rs587777384 		1.000 0.040 2 73913566 missense variant G/A;T snv
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.800 1.000 6 2012 2016
dbSNP: rs78001248
rs78001248 		0.925 0.080 2 73913565 missense variant C/T snv
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.800 1.000 6 2012 2016
dbSNP: rs587777383
rs587777383 		0.882 0.040 2 73909130 missense variant C/A;T snv 4.0E-06
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.800 1.000 4 2012 2014
dbSNP: rs587777385
rs587777385 		1.000 0.040 2 73901429 missense variant C/T snv
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.800 1.000 4 2012 2014
dbSNP: rs587777386
rs587777386 		0.882 0.040 2 73901430 missense variant G/A snv
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.800 1.000 4 2012 2014
dbSNP: rs587777387
rs587777387 		0.882 0.040 2 73914835 missense variant C/T snv
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.800 1.000 4 2012 2014
dbSNP: rs587777388
rs587777388 		1.000 0.040 2 73909088 missense variant T/A;C snv 4.0E-06
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.800 1.000 4 2012 2014
dbSNP: rs1057516046
rs1057516046 		1.000 0.040 2 73913646 missense variant G/A snv
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1553396458
rs1553396458 		1.000 0.040 2 73914698 missense variant G/A snv
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.700 0
dbSNP: rs587777870
rs587777870 		1.000 0.040 2 73916584 missense variant GC/AA mnv
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.700 0
dbSNP: rs730880256
rs730880256 		1.000 0.040 2 73909131 missense variant G/A;T snv 4.0E-06
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.700 0
dbSNP: rs768290597
rs768290597 		1.000 0.040 2 73902698 missense variant C/A snv 9.8E-05 1.2E-04
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.700 0
dbSNP: rs864309490
rs864309490 		1.000 0.040 2 73902367 missense variant T/C snv
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.700 0
dbSNP: rs864309491
rs864309491 		1.000 0.040 2 73902420 stop gained C/G;T snv
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.700 0
dbSNP: rs864309492
rs864309492 		1.000 0.040 2 73913626 missense variant G/A snv
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.700 0