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: 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
dbSNP: rs1214424848
rs1214424848 		0.925 0.120 1 152314399 stop gained C/A;T snv 8.0E-06
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1218912272
rs1218912272 		0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1218912272
rs1218912272 		0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1218912272
rs1218912272 		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 		0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C0151908
Disease: Dry skin
Dry skin 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1218912272
rs1218912272 		0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1218912272
rs1218912272 		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 		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 		0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121909626
rs121909626 		0.882 0.120 1 152307225 stop gained G/C;T snv 2.0E-05
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121909626
rs121909626 		0.882 0.120 1 152307225 stop gained G/C;T snv 2.0E-05
CUI: C2675432
Disease: DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs138726443
rs138726443 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs138726443
rs138726443 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs149484917
rs149484917 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs150597413
rs150597413 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553219199
rs1553219199 		1.000 1 152356721 stop gained A/T snv
CUI: C4748093
Disease: PEELING SKIN SYNDROME 6
PEELING SKIN SYNDROME 6 		0.700 0
dbSNP: rs200519781
rs200519781 		1.000 0.080 1 152311565 frameshift variant T/- del 2.9E-04
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs200519781
rs200519781 		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: rs3829868
rs3829868 		0.925 0.080 1 152409644 missense variant C/T snv 0.21 0.15
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs558269137
rs558269137 		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