Source: CLINVAR

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: rs149484917
rs149484917
FLG ; FLG-AS1
0.882 0.120 1 152304939 stop gained G/C;T snv 4.7E-04; 4.0E-06
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		0.700 0
dbSNP: rs761212672
rs761212672
FLG ; FLG-AS1
0.882 0.120 1 152304999 stop gained G/T snv 3.2E-05
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		0.700 1.000 1 2008 2008
dbSNP: rs150597413
rs150597413
FLG ; FLG-AS1
0.827 0.160 1 152305146 stop gained G/A;C;T snv 3.6E-05; 4.0E-06; 1.5E-03
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		0.700 0
dbSNP: rs121909626
rs121909626
FLG ; FLG-AS1
0.882 0.120 1 152307225 stop gained G/C;T snv 2.0E-05
CUI: C2675432
Disease: DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs121909626
rs121909626
FLG ; FLG-AS1
0.882 0.120 1 152307225 stop gained G/C;T snv 2.0E-05
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		0.700 0
dbSNP: rs138726443
rs138726443
FLG ; FLG-AS1
0.790 0.200 1 152307547 stop gained G/A;C;T snv 2.8E-03; 4.0E-06; 1.6E-05
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		0.700 0
dbSNP: rs138726443
rs138726443
FLG ; FLG-AS1
0.790 0.200 1 152307547 stop gained G/A;C;T snv 2.8E-03; 4.0E-06; 1.6E-05
CUI: C1853965
Disease: Dermatitis, Atopic, 2
Dermatitis, Atopic, 2 		0.700 0
dbSNP: rs535289422
rs535289422
FLG ; FLG-AS1
1.000 0.080 1 152307697 stop gained G/A;C snv 1.6E-05; 4.0E-06
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		0.700 1.000 2 2011 2013
dbSNP: rs372754256
rs372754256
FLG ; FLG-AS1
1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 6 1966 2013
dbSNP: rs372754256
rs372754256
FLG ; FLG-AS1
1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 6 1966 2013
dbSNP: rs372754256
rs372754256
FLG ; FLG-AS1
1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 1966 2013
dbSNP: rs141784184
rs141784184
FLG ; FLG-AS1
1.000 0.080 1 152309169 stop gained G/A;T snv 8.0E-06; 1.6E-03
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		0.700 1.000 2 2006 2006
dbSNP: rs747301529
rs747301529
FLG ; FLG-AS1
1.000 0.120 1 152309716 stop gained C/A snv 4.0E-06
CUI: C1853965
Disease: Dermatitis, Atopic, 2
Dermatitis, Atopic, 2 		0.700 0
dbSNP: rs754812742
rs754812742
FLG ; FLG-AS1
1.000 0.080 1 152310981 stop gained G/A;T snv 2.4E-05; 1.2E-04
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		0.700 1.000 1 2011 2011
dbSNP: rs200519781
rs200519781
FLG ; FLG-AS1
1.000 0.080 1 152311565 frameshift variant T/- del 2.9E-04
CUI: C2675432
Disease: DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs200519781
rs200519781
FLG ; FLG-AS1
1.000 0.080 1 152311565 frameshift variant T/- del 2.9E-04
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		0.700 0
dbSNP: rs115746363
rs115746363
FLG ; FLG-AS1
0.882 0.120 1 152312410 stop gained G/A;C snv 6.0E-04
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		0.700 0
dbSNP: rs558269137
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		0.700 1.000 7 2006 2016
dbSNP: rs558269137
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C0013595
Disease: Eczema
Eczema 		0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C1853965
Disease: Dermatitis, Atopic, 2
Dermatitis, Atopic, 2 		0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C2675432
Disease: DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO 		0.700 0