Source: BEFREE

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 1 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 1 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 1 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 1 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: rs28935473
rs28935473
FLNA
0.925 0.080 X 154360199 missense variant G/A snv
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.710 1.000 1 2006 2006
dbSNP: rs143873938
rs143873938
FLNA
0.882 0.120 X 154365245 missense variant C/A;G;T snv 3.1E-03
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		0.020 1.000 2 2002 2010
dbSNP: rs137853312
rs137853312
FLNA
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia 		0.010 1.000 1 2006 2006
dbSNP: rs137853312
rs137853312
FLNA
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.010 1.000 1 2006 2006
dbSNP: rs137853315
rs137853315
FLNA
0.882 0.200 X 154368081 missense variant G/A snv
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs137853315
rs137853315
FLNA
0.882 0.200 X 154368081 missense variant G/A snv
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.010 1.000 1 2006 2006
dbSNP: rs137853316
rs137853316
FLNA
0.851 0.160 X 154354860 missense variant C/A snv
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.010 1.000 1 2006 2006
dbSNP: rs137853316
rs137853316
FLNA
0.851 0.160 X 154354860 missense variant C/A snv
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia 		0.010 1.000 1 2006 2006
dbSNP: rs137853319
rs137853319
FLNA
0.925 0.160 X 154359839 missense variant G/A snv 2.7E-04 2.3E-04
CUI: C0220769
Disease: FG syndrome
FG syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs143873938
rs143873938
FLNA
0.882 0.120 X 154365245 missense variant C/A;G;T snv 3.1E-03
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.010 1.000 1 2010 2010
dbSNP: rs143873938
rs143873938
FLNA
0.882 0.120 X 154365245 missense variant C/A;G;T snv 3.1E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.010 1.000 1 2010 2010
dbSNP: rs143873938
rs143873938
FLNA
0.882 0.120 X 154365245 missense variant C/A;G;T snv 3.1E-03
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.010 1.000 1 2010 2010
dbSNP: rs368750879
rs368750879
FLNA
1.000 X 154354390 missense variant C/T snv 3.3E-05 2.8E-05
CUI: C4511035
Disease: Isolated thrombocytopenia
Isolated thrombocytopenia 		0.010 1.000 1 2013 2013
dbSNP: rs782549964
rs782549964
FLNA
1.000 0.040 X 154353704 missense variant C/T snv 4.5E-05 5.6E-05
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.010 1.000 1 2013 2013