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: rs61816761
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		0.740 1.000 11 2006 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: 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: rs61816761
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0041834
Disease: Erythema
Erythema 		0.700 1.000 4 2006 2006
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.800 1.000 4 2006 2018
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis 		0.700 1.000 4 2006 2006
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.700 1.000 4 2006 2006
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: 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: 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: 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: rs114733570
rs114733570
FLG ; FLG-AS1
1.000 0.080 1 152315363 stop gained C/A snv 1.2E-04 2.0E-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: rs1214424848
rs1214424848
FLG ; FLG-AS1
0.925 0.120 1 152314399 stop gained C/A;T snv 8.0E-06
CUI: C1853965
Disease: Dermatitis, Atopic, 2
Dermatitis, Atopic, 2 		0.700 0
dbSNP: rs1214424848
rs1214424848
FLG ; FLG-AS1
0.925 0.120 1 152314399 stop gained C/A;T snv 8.0E-06
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		0.700 0
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
dbSNP: rs1218912272
rs1218912272
FLG ; FLG-AS1
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 0