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: rs281875332
rs281875332
ACTB
1.000 0.240 7 5529331 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 		0.800 1.000 2 2012 2015
dbSNP: rs281875333
rs281875333
ACTB
1.000 0.240 7 5528497 missense variant G/A;T snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.800 1.000 2 2012 2015
dbSNP: rs281875334
rs281875334
ACTB
1.000 0.240 7 5528496 missense variant C/T snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.800 1.000 1 2012 2012
dbSNP: rs1373863123
rs1373863123
ACTB
1.000 0.080 7 5529540 missense variant G/A 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs1373863123
rs1373863123
ACTB
1.000 0.080 7 5529540 missense variant G/A snv
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 1.000 1 2016 2016
dbSNP: rs1373863123
rs1373863123
ACTB
1.000 0.080 7 5529540 missense variant G/A snv
CUI: C0030552
Disease: Paresis
Paresis 		0.010 1.000 1 2016 2016
dbSNP: rs1373863123
rs1373863123
ACTB
1.000 0.080 7 5529540 missense variant G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 1.000 1 2016 2016
dbSNP: rs104894003
rs104894003
ACTB
0.827 0.320 7 5528536 missense variant G/A snv
CUI: C1853623
Disease: Fryns-Aftimos Syndrome
Fryns-Aftimos Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs104894003
rs104894003
ACTB
0.827 0.320 7 5528536 missense variant G/A snv
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		0.010 1.000 1 2017 2017
dbSNP: rs104894003
rs104894003
ACTB
0.827 0.320 7 5528536 missense variant G/A snv
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.010 1.000 1 2018 2018
dbSNP: rs104894003
rs104894003
ACTB
0.827 0.320 7 5528536 missense variant G/A snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.010 1.000 1 2018 2018
dbSNP: rs2098226
rs2098226
ACTB
7 5543414 intron variant A/T snv 0.26
CUI: C1623258
Disease: Electrocardiography
Electrocardiography 		0.700 1.000 1 2018 2018
dbSNP: rs2908425
rs2908425
ACTB
7 5529696 5 prime UTR variant G/A;C snv 0.33; 1.3E-05
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2966449
rs2966449
ACTB
0.925 0.160 7 5531994 intron variant C/T snv 0.41
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.010 1.000 1 2019 2019
dbSNP: rs2966449
rs2966449
ACTB
0.925 0.160 7 5531994 intron variant C/T snv 0.41
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2019 2019