Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10951154
rs10951154
HOXA1 ; HOTAIRM1
0.925 0.040 7 27095695 missense variant C/A;G;T snv 0.76
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.040 0.750 4 2002 2009
dbSNP: rs10951154
rs10951154
HOXA1 ; HOTAIRM1
0.925 0.040 7 27095695 missense variant C/A;G;T snv 0.76
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.020 0.500 2 2011 2012
dbSNP: rs2456092
rs2456092
KRT16P2 ; LOC105371551
1.000 0.040 17 16832218 splice region variant T/A;C snv 3.1E-04; 0.75
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs490460
rs490460
BACE1 ; BACE1-AS
1.000 0.040 11 117293049 splice region variant C/A;T snv 0.74
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2017 2017
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0004096
Disease: Asthma
Asthma 		0.800 1.000 13 2009 2018
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.860 0.900 10 2008 2015
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.070 0.714 7 2011 2018
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0017638
Disease: Glioma
Glioma 		0.060 1.000 6 2010 2018
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0013595
Disease: Eczema
Eczema 		0.030 0.667 3 2011 2013
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.810 1.000 3 2012 2014
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.030 0.667 3 2010 2017
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.020 1.000 2 2011 2011
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.020 1.000 2 2013 2015
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0043144
Disease: Wheezing
Wheezing 		0.020 1.000 2 2009 2013
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.700 1.000 1 2011 2011
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR 		0.010 1.000 1 2016 2016
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2019 2019
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 1.000 1 2011 2011
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.700 1.000 1 2013 2013
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 < 0.001 1 2015 2015
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0018572
Disease: Hand, Foot and Mouth Disease
Hand, Foot and Mouth Disease 		0.010 1.000 1 2019 2019
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.010 1.000 1 2011 2011
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0267026
Disease: Actinic cheilitis
Actinic cheilitis 		0.010 1.000 1 2017 2017