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: rs104894003
rs104894003
ACTB
0.827 0.320 7 5528536 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1999 2017
dbSNP: rs104894003
rs104894003
ACTB
0.827 0.320 7 5528536 missense variant G/A snv
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		0.800 1.000 2 2002 2006
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: 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: C0013421
Disease: Dystonia
Dystonia 		0.010 1.000 1 2018 2018
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: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 0
dbSNP: rs1166509821
rs1166509821
ACTB
0.925 0.240 7 5529305 missense variant G/A;C snv 4.0E-06
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		0.700 0
dbSNP: rs1166509821
rs1166509821
ACTB
0.925 0.240 7 5529305 missense variant G/A;C 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 0
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: 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: rs1554329068
rs1554329068
ACTB
1.000 0.240 7 5527759 stop gained T/A snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 0
dbSNP: rs1554329113
rs1554329113
ACTB
1.000 0.240 7 5527863 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 0
dbSNP: rs1554329269
rs1554329269
ACTB
1.000 0.240 7 5528281 missense variant C/G snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 0
dbSNP: rs1554329331
rs1554329331
ACTB
1.000 0.240 7 5528556 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 0
dbSNP: rs1554329516
rs1554329516
ACTB
1.000 0.240 7 5529174 missense variant T/A snv
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 0
dbSNP: rs1554329523
rs1554329523
ACTB
1.000 0.240 7 5529195 frameshift variant A/- del
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 0
dbSNP: rs1554329546
rs1554329546
ACTB
1.000 0.240 7 5529253 inframe deletion AAG/- delins
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.700 0
dbSNP: rs1554329552
rs1554329552
ACTB
1.000 7 5529265 missense variant G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1999 2017
dbSNP: rs1554329646
rs1554329646
ACTB
1.000 0.240 7 5529545 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 0
dbSNP: rs1562720119
rs1562720119
ACTB
1.000 0.240 7 5529639 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: 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: rs281875331
rs281875331
ACTB
1.000 0.240 7 5529624 missense variant T/C;G 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