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: rs1557178535
rs1557178535
FLNA
0.851 0.120 X 154363633 intron variant A/T snv
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
Chronic intestinal pseudo-obstruction 		0.700 0
dbSNP: rs1557178535
rs1557178535
FLNA
0.851 0.120 X 154363633 intron variant A/T snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs1557178535
rs1557178535
FLNA
0.851 0.120 X 154363633 intron variant A/T snv
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 0
dbSNP: rs1557178535
rs1557178535
FLNA
0.851 0.120 X 154363633 intron variant A/T snv
CUI: C2746068
Disease: Congenital idiopathic intestinal pseudoobstruction
Congenital idiopathic intestinal pseudoobstruction 		0.700 0
dbSNP: rs1057516198
rs1057516198
FLNA
1.000 0.080 X 154359008 stop gained G/A snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs1060500717
rs1060500717
FLNA
1.000 0.080 X 154352226 stop gained G/A;C snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs137853310
rs137853310
FLNA
0.925 0.080 X 154367920 stop gained G/A snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs137853310
rs137853310
FLNA
0.925 0.080 X 154367920 stop gained G/A snv
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 0
dbSNP: rs1557177623
rs1557177623
FLNA
0.851 0.120 X 154359846 stop gained C/A;T snv
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 0
dbSNP: rs1557177623
rs1557177623
FLNA
0.851 0.120 X 154359846 stop gained C/A;T snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 0
dbSNP: rs1557177623
rs1557177623
FLNA
0.851 0.120 X 154359846 stop gained C/A;T snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs1557177623
rs1557177623
FLNA
0.851 0.120 X 154359846 stop gained C/A;T snv
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 0
dbSNP: rs1557177738
rs1557177738
FLNA
0.851 0.120 X 154360266 stop gained C/A snv
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 0
dbSNP: rs1557177738
rs1557177738
FLNA
0.851 0.120 X 154360266 stop gained C/A snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 0
dbSNP: rs1557177738
rs1557177738
FLNA
0.851 0.120 X 154360266 stop gained C/A snv
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 0
dbSNP: rs1557177738
rs1557177738
FLNA
0.851 0.120 X 154360266 stop gained C/A snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs1557179357
rs1557179357
FLNA
0.851 0.120 X 154366618 stop gained -/TATTGGCGGT delins
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 0
dbSNP: rs1557179357
rs1557179357
FLNA
0.851 0.120 X 154366618 stop gained -/TATTGGCGGT delins
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 0
dbSNP: rs1557179357
rs1557179357
FLNA
0.851 0.120 X 154366618 stop gained -/TATTGGCGGT delins
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs1557179357
rs1557179357
FLNA
0.851 0.120 X 154366618 stop gained -/TATTGGCGGT delins
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 0
dbSNP: rs1569551449
rs1569551449
FLNA
1.000 0.080 X 154352019 stop gained C/A snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0
dbSNP: rs1569551861
rs1569551861
FLNA
0.851 0.120 X 154367685 stop gained G/A snv
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 0
dbSNP: rs1569551861
rs1569551861
FLNA
0.851 0.120 X 154367685 stop gained G/A snv
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 0
dbSNP: rs1569551861
rs1569551861
FLNA
0.851 0.120 X 154367685 stop gained G/A snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 0
dbSNP: rs1569551861
rs1569551861
FLNA
0.851 0.120 X 154367685 stop gained G/A snv
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.700 0