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.
VITAMIN B12 MEASUREMENT
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
22 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.800 1.000 3 2009 2017
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
1147 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.710 1.000 2 2010 2015
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
827 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.710 1.000 2 2012 2015
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
609 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.700 1.000 1 2015 2015
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
142 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.700 1.000 1 2015 2015
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
132 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.700 1.000 1 2015 2015
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
141 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.700 1.000 1 2015 2015
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
428 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.700 1.000 1 2015 2015
Autoimmune thyroiditis
CUI: C0920350
Disease: Autoimmune thyroiditis
76 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.700 1.000 1 2015 2015
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
263 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.700 1.000 1 2015 2015
Common Variable Immunodeficiency
CUI: C0009447
Disease: Common Variable Immunodeficiency
85 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.700 1.000 1 2015 2015
Diabetes Mellitus, Insulin-Dependent
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
954 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.700 1.000 1 2015 2015
Juvenile arthritis
CUI: C3495559
Disease: Juvenile arthritis
128 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.700 1.000 1 2015 2015
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.700 1.000 1 2015 2015
Psoriasis
CUI: C0033860
Disease: Psoriasis
705 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.700 1.000 1 2015 2015
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.010 1.000 1 2016 2016