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: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0040485
Disease: Torticollis
Torticollis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 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
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C2675432
Disease: DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries 0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs747301529
rs747301529 		1.000 0.120 1 152309716 stop gained C/A snv 4.0E-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
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: 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: 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