rs61816761, FLG;FLG-AS1

N. diseases: 43
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cutis marmorata
CUI: C0263401
Disease: Cutis marmorata
9 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Dermatitis, Atopic, 2
CUI: C1853965
Disease: Dermatitis, Atopic, 2
5 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
CUI: C2675432
Disease: DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
4 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Encephalopathy, CTCAE 3.0
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
24 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Facial asymmetry
CUI: C1306710
Disease: Facial asymmetry
13 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Hypospadias
CUI: C0848558
Disease: Hypospadias
80 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Torticollis
CUI: C0040485
Disease: Torticollis
10 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
19 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
Allergic Reaction
CUI: C1527304
Disease: Allergic Reaction
1019 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 1.000 1 2017 2017
Respiratory Tract Diseases
CUI: C0035242
Disease: Respiratory Tract Diseases
109 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 1.000 1 2019 2019
Allergic asthma
CUI: C0155877
Disease: Allergic asthma
55 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.010 1.000 1 2011 2011
Chronic hand eczema
CUI: C1276092
Disease: Chronic hand eczema
1 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.010 1.000 1 2009 2009
Dermatitis
CUI: C0011603
Disease: Dermatitis
16 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.010 1.000 1 2012 2012
Dermatologic disorders
CUI: C0037274
Disease: Dermatologic disorders
21 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.010 1.000 1 2006 2006
Dyssomnias
CUI: C0700201
Disease: Dyssomnias
10 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.010 1.000 1 2018 2018