FLG-AS1, FLG antisense RNA 1, 339400

N. diseases: 43; N. variants: 59
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.900 1.000 15 2006 2019
dbSNP: rs3126085
rs3126085 		0.851 0.280 1 152328341 intron variant G/A snv 0.29
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.810 1.000 2 2011 2012
dbSNP: rs61816761
rs61816761 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.800 1.000 16 2006 2018
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.780 1.000 12 2007 2019
dbSNP: rs61816761
rs61816761 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.740 1.000 13 2006 2013
dbSNP: rs11204971
rs11204971 		0.925 0.120 1 152286602 intron variant A/G snv 0.15
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.710 1.000 2 2011 2012
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.710 1.000 2 2007 2019
dbSNP: rs558269137
rs558269137 		0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 7 2006 2016
dbSNP: rs372754256
rs372754256 		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: rs372754256
rs372754256 		1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 6 1966 2013
dbSNP: rs372754256
rs372754256 		1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 1966 2013
dbSNP: rs797045090
rs797045090 		1.000 0.080 1 152312743 stop gained G/A snv
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 5 2006 2012
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0041834
Disease: Erythema
Erythema 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 4 2006 2006
dbSNP: rs61816761
rs61816761 		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 		Skin and Connective Tissue Diseases 0.700 1.000 4 2006 2006
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0003862
Disease: Arthralgia
Arthralgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.700 1.000 4 2006 2006
dbSNP: rs12123821
rs12123821 		0.925 0.080 1 152206676 intron variant C/T snv 2.9E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 2 2019 2019
dbSNP: rs141784184
rs141784184 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 2006 2006
dbSNP: rs535289422
rs535289422 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 2011 2013
dbSNP: rs11204981
rs11204981 		1.000 0.040 1 152325736 intron variant G/A snv 0.19
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12123821
rs12123821 		0.925 0.080 1 152206676 intron variant C/T snv 2.9E-02
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12123821
rs12123821 		0.925 0.080 1 152206676 intron variant C/T snv 2.9E-02
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12123821
rs12123821 		0.925 0.080 1 152206676 intron variant C/T snv 2.9E-02
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12130219
rs12130219 		0.925 0.120 1 152189630 non coding transcript exon variant A/G snv 0.23
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs12130219
rs12130219 		0.925 0.120 1 152189630 non coding transcript exon variant A/G snv 0.23
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1858480
rs1858480 		1.000 0.040 1 152329259 intron variant A/G snv 0.31
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017