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: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.850 0.818 11 2008 2019
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.860 0.800 10 2007 2019
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.060 1.000 6 2010 2018
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.050 1.000 5 2010 2017
dbSNP: rs231779
rs231779
CTLA4
0.827 0.160 2 203869764 intron variant C/T snv 0.41
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.030 1.000 3 2010 2018
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 0.667 3 2015 2018
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.030 1.000 3 2009 2014
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.810 1.000 3 2010 2019
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.030 0.667 3 2013 2017
dbSNP: rs733618
rs733618
CTLA4
0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 1.000 3 2014 2018
dbSNP: rs733618
rs733618
CTLA4
0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 2014 2018
dbSNP: rs733618
rs733618
CTLA4
0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.030 0.667 3 2017 2019
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2015 2018
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0004096
Disease: Asthma
Asthma 		0.020 1.000 2 2010 2016
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 1.000 2 2016 2019
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.020 0.500 2 2018 2019
dbSNP: rs4553808
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2015 2018
dbSNP: rs4553808
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2017 2018
dbSNP: rs4553808
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 0.500 2 2017 2018
dbSNP: rs4553808
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2015 2018
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2015 2018
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		0.020 1.000 2 2012 2013
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.020 1.000 2 2016 2017
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2015 2018
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.020 1.000 2 2010 2017