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.
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
132 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
141 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
Basal Cell Cancer
CUI: C0751676
Disease: Basal Cell Cancer
109 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
Basal cell carcinoma
CUI: C0007117
Disease: Basal cell carcinoma
109 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
Basal Cell Neoplasm
CUI: C0206710
Disease: Basal Cell Neoplasm
109 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
Blood basophil count (lab test)
CUI: C0200641
Disease: Blood basophil count (lab test)
452 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
Cholangitis, Sclerosing
CUI: C0008313
Disease: Cholangitis, Sclerosing
276 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
Eosinophil count procedure
CUI: C0200638
Disease: Eosinophil count procedure
1144 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
Granulocyte count
CUI: C0857490
Disease: Granulocyte count
150 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
Hodgkin Disease
CUI: C0019829
Disease: Hodgkin Disease
148 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2018 2018
Lymphocyte Count measurement
CUI: C0200635
Disease: Lymphocyte Count measurement
456 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2011 2011
Neutrophil count (procedure)
CUI: C0200633
Disease: Neutrophil count (procedure)
234 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
CUI: C3277701
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
1 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 0
Juvenile arthritis
CUI: C3495559
Disease: Juvenile arthritis
128 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.090 0.889 9 2005 2015
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
92 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.060 0.833 6 2005 2018
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
605 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.050 0.600 5 2005 2016
Juvenile rheumatoid arthritis
CUI: C3714757
Disease: Juvenile rheumatoid arthritis
10 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.050 1.000 5 2005 2015
Alopecia
CUI: C0002170
Disease: Alopecia
375 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.040 1.000 4 2006 2019
Tuberculosis, Pulmonary
CUI: C0041327
Disease: Tuberculosis, Pulmonary
171 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.040 0.750 4 2009 2017
Autoimmune thyroid disease (AITD)
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
54 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2009 2012
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
263 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2005 2019
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2006 2017
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2006 2017
Early Rheumatoid Arthritis
CUI: C3899278
Disease: Early Rheumatoid Arthritis
5 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2006 2011