Source: ALL

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: rs397515470
rs397515470
ACTB
0.925 0.280 7 5529175 missense variant C/T snv
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.010 1.000 1 2013 2013
dbSNP: rs852426
rs852426
ACTB
0.882 0.240 7 5526722 downstream gene variant C/T snv 0.39
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.010 1.000 1 2019 2019
dbSNP: rs852426
rs852426
ACTB
0.882 0.240 7 5526722 downstream gene variant C/T snv 0.39
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2020 2020
dbSNP: rs852426
rs852426
ACTB
0.882 0.240 7 5526722 downstream gene variant C/T snv 0.39
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2020 2020
dbSNP: rs852426
rs852426
ACTB
0.882 0.240 7 5526722 downstream gene variant C/T snv 0.39
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2019 2019
dbSNP: rs852426
rs852426
ACTB
0.882 0.240 7 5526722 downstream gene variant C/T snv 0.39
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 1.000 1 2020 2020
dbSNP: rs886041268
rs886041268
ACTB
1.000 0.080 7 5529381 missense variant C/T snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.010 1.000 1 2019 2019