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: 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: rs797045090
rs797045090
FLG ; FLG-AS1
1.000 0.080 1 152312743 stop gained G/A snv
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		0.700 1.000 5 2006 2012
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: rs1060499587
rs1060499587
FLG ; FLG-AS1
1.000 0.080 1 152313983 frameshift variant TCCTG/- delins
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		0.700 0
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: 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
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: 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: 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: 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: rs1218912272
rs1218912272
FLG ; FLG-AS1
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1218912272
rs1218912272
FLG ; FLG-AS1
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C4021978
Disease: Abnormality of salivation
Abnormality of salivation 		0.700 0
dbSNP: rs1218912272
rs1218912272
FLG ; FLG-AS1
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.700 0
dbSNP: rs1218912272
rs1218912272
FLG ; FLG-AS1
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.700 0
dbSNP: rs1218912272
rs1218912272
FLG ; FLG-AS1
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs1218912272
rs1218912272
FLG ; FLG-AS1
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.700 0
dbSNP: rs1218912272
rs1218912272
FLG ; FLG-AS1
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		0.700 0