Source: CURATED

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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
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: 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