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: rs886041270
rs886041270
ACTB
1.000 0.240 7 5529576 missense variant G/C snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 0
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
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: rs797044950
rs797044950
ACTB
1.000 7 5528546 missense variant G/A;C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1999 2017
dbSNP: rs786205585
rs786205585
ACTB
1.000 0.240 7 5529307 missense variant G/A;C snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 0
dbSNP: rs769182426
rs769182426
ACTB
1.000 7 5528100 missense variant G/A;C snv 8.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 1999 2017
dbSNP: rs769182426
rs769182426
ACTB
1.000 7 5528100 missense variant G/A;C snv 8.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1999 2017
dbSNP: rs765265404
rs765265404
ACTB
1.000 0.240 7 5529173 missense variant C/A;T snv 2.0E-05
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 0
dbSNP: rs765265404
rs765265404
ACTB
1.000 0.240 7 5529173 missense variant C/A;T snv 2.0E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587780273
rs587780273
ACTB
1.000 0.240 7 5529594 missense variant C/T snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 0
dbSNP: rs587779777
rs587779777
ACTB
1.000 0.240 7 5528458 missense variant C/T snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 1.000 1 2015 2015
dbSNP: rs587779776
rs587779776
ACTB
1.000 0.240 7 5528472 missense variant G/C snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 1.000 1 2015 2015
dbSNP: rs587779775
rs587779775
ACTB
1.000 0.240 7 5528637 missense variant G/A snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 1.000 1 2015 2015
dbSNP: rs587779774
rs587779774
ACTB
1.000 0.240 7 5529165 missense variant G/A snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 1.000 1 2015 2015
dbSNP: rs587779773
rs587779773
ACTB
1.000 0.240 7 5529168 missense variant A/G snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 1.000 1 2015 2015
dbSNP: rs587779771
rs587779771
ACTB
1.000 0.240 7 5529300 missense variant A/G snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 1.000 1 2015 2015
dbSNP: rs587779770
rs587779770
ACTB
1.000 0.240 7 5529304 missense variant C/T snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 1.000 1 2015 2015
dbSNP: rs587779769
rs587779769
ACTB
1.000 0.240 7 5529315 missense variant G/A snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 1.000 1 2015 2015
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: rs397515470
rs397515470
ACTB
0.925 0.280 7 5529175 missense variant C/T snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 1.000 1 2015 2015
dbSNP: rs368352689
rs368352689
ACTB
1.000 0.240 7 5527786 missense variant C/G;T snv 4.0E-06
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 1.000 1 1999 1999