ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Source: ALL
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: rs387906592
rs387906592
0.752 0.280 10 88941309 missense variant C/T snv
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5
0.800 1.000 1 2011 2011
dbSNP: rs121434527
rs121434527
0.925 0.120 10 88939542 missense variant C/T snv
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5
0.700 0
dbSNP: rs121434528
rs121434528
0.925 0.120 10 88939543 missense variant G/A snv 7.0E-06
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5
0.700 0