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: rs1858481
rs1858481 		1.000 0.040 1 152329564 intron variant G/A snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1858482
rs1858482 		1.000 0.040 1 152334445 non coding transcript exon variant C/T snv 0.29
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1858483
rs1858483 		1.000 0.040 1 152337610 non coding transcript exon variant T/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1933063
rs1933063 		1.000 0.040 1 152328745 intron variant A/G snv 0.93
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3126087
rs3126087 		1.000 0.040 1 152333274 non coding transcript exon variant T/A snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3126088
rs3126088 		1.000 0.040 1 152333309 non coding transcript exon variant A/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3134871
rs3134871 		1.000 0.040 1 152326757 intron variant A/G snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs558269137
rs558269137 		0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137 		0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137 		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 		0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C1853965
Disease: Dermatitis, Atopic, 2
Dermatitis, Atopic, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137 		0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 1 2006 2006
dbSNP: rs558269137
rs558269137 		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: rs55879323
rs55879323 		1.000 0.120 1 152196264 intron variant C/T snv 0.42
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: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs61816766
rs61816766 		1.000 0.080 1 152347096 intron variant T/C snv 1.6E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs61816766
rs61816766 		1.000 0.080 1 152347096 intron variant T/C snv 1.6E-02
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs754812742
rs754812742 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2011 2011
dbSNP: rs761212672
rs761212672 		0.882 0.120 1 152304999 stop gained G/T snv 3.2E-05
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1050823116
rs1050823116 		1.000 1 152357154 stop gained G/C snv 8.0E-06 2.1E-05
CUI: C4748093
Disease: PEELING SKIN SYNDROME 6
PEELING SKIN SYNDROME 6 		0.700 0
dbSNP: rs1060499587
rs1060499587 		1.000 0.080 1 152313983 frameshift variant TCCTG/- delins
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs114733570
rs114733570 		1.000 0.080 1 152315363 stop gained C/A snv 1.2E-04 2.0E-04
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs115746363
rs115746363 		0.882 0.120 1 152312410 stop gained G/A;C snv 6.0E-04
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1214424848
rs1214424848 		0.925 0.120 1 152314399 stop gained C/A;T snv 8.0E-06
CUI: C1853965
Disease: Dermatitis, Atopic, 2
Dermatitis, Atopic, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0