Source: UNIPROT

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: rs137853312
rs137853312
FLNA
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1 		0.810 1.000 3 2003 2016
dbSNP: rs137853314
rs137853314
FLNA
1.000 0.080 X 154367857 missense variant C/A snv
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		0.810 1.000 3 2003 2016
dbSNP: rs28935470
rs28935470
FLNA
1.000 0.080 X 154367505 missense variant C/T snv
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.810 1.000 3 2003 2016
dbSNP: rs137853311
rs137853311
FLNA
1.000 0.080 X 154364582 missense variant G/A snv 1.1E-05
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.800 1.000 6 2001 2006
dbSNP: rs137853313
rs137853313
FLNA
1.000 0.080 X 154371130 missense variant G/C snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.800 1.000 6 2001 2006
dbSNP: rs137853315
rs137853315
FLNA
0.882 0.200 X 154368081 missense variant G/A snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.800 1.000 6 2001 2006
dbSNP: rs28935169
rs28935169
FLNA
1.000 0.080 X 154371001 missense variant T/A snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.800 1.000 6 2001 2006
dbSNP: rs137853317
rs137853317
FLNA
0.827 0.120 X 154367878 missense variant G/A snv
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		0.800 1.000 3 2003 2016
dbSNP: rs137853318
rs137853318
FLNA
1.000 0.080 X 154367732 missense variant C/A snv
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.800 1.000 3 2003 2016
dbSNP: rs28935469
rs28935469
FLNA
0.882 0.280 X 154367844 missense variant G/A snv
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		0.800 1.000 3 2003 2016
dbSNP: rs28935471
rs28935471
FLNA
1.000 0.080 X 154360319 missense variant T/G snv
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1 		0.800 1.000 3 2003 2016
dbSNP: rs28935472
rs28935472
FLNA
1.000 0.080 X 154360233 missense variant C/T snv
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.800 1.000 2 2003 2016
dbSNP: rs137853316
rs137853316
FLNA
0.851 0.160 X 154354860 missense variant C/A snv
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1 		0.710 1.000 3 2003 2016
dbSNP: rs267606816
rs267606816
FLNA
0.925 0.200 X 154367403 missense variant C/T snv
CUI: C0262436
Disease: Cardiac valvular dysplasia, X-linked
Cardiac valvular dysplasia, X-linked 		0.710 1.000 1 2007 2007
dbSNP: rs267606817
rs267606817
FLNA
0.925 0.200 X 154364263 missense variant A/T snv
CUI: C0262436
Disease: Cardiac valvular dysplasia, X-linked
Cardiac valvular dysplasia, X-linked 		0.710 1.000 1 2007 2007
dbSNP: rs782611953
rs782611953
FLNA
1.000 0.080 X 154365163 missense variant G/A;C;T snv 1.1E-05; 5.5E-06; 5.5E-06
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 1.000 3 2003 2016
dbSNP: rs80338837
rs80338837
FLNA
1.000 0.080 X 154360243 missense variant G/T snv
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 1.000 2 2003 2016
dbSNP: rs137853319
rs137853319
FLNA
0.925 0.160 X 154359839 missense variant G/A snv 2.7E-04 2.3E-04
CUI: C1845902
Disease: FG SYNDROME 2
FG SYNDROME 2 		0.700 1.000 1 2007 2007
dbSNP: rs267606815
rs267606815
FLNA
0.925 0.200 X 154364638 missense variant G/A;T snv 5.5E-06
CUI: C0262436
Disease: Cardiac valvular dysplasia, X-linked
Cardiac valvular dysplasia, X-linked 		0.700 1.000 1 2007 2007
dbSNP: rs727503930
rs727503930
FLNA
1.000 0.080 X 154350192 missense variant C/T snv 7.2E-05
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		0.700 0
dbSNP: rs863223628
rs863223628
FLNA
1.000 0.080 X 154367955 missense variant T/G snv
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 0