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: 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: 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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.810 1.000 3 2010 2019
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: rs11571316
rs11571316
CTLA4
0.925 0.160 2 203866366 upstream gene variant G/A;C snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2011 2011
dbSNP: rs1553657378
rs1553657378
CTLA4
1.000 0.040 2 203870594 missense variant G/A snv
CUI: C4015214
Disease: CTLA4 Haploinsufficiency
CTLA4 Haploinsufficiency 		0.700 1.000 1 2018 2018
dbSNP: rs1553657387
rs1553657387
CTLA4
1.000 0.040 2 203870636 missense variant G/A snv
CUI: C4015214
Disease: CTLA4 Haploinsufficiency
CTLA4 Haploinsufficiency 		0.700 1.000 1 2018 2018
dbSNP: rs231774
rs231774
CTLA4
2 203867500 upstream gene variant T/A snv 0.96
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		0.700 1.000 1 2015 2015
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.700 1.000 1 2011 2011
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		0.700 1.000 1 2011 2011
dbSNP: rs1357409506
rs1357409506
CTLA4
1.000 0.040 2 203870896 stop gained C/A;T snv 7.0E-06
CUI: C4015214
Disease: CTLA4 Haploinsufficiency
CTLA4 Haploinsufficiency 		0.700 0
dbSNP: rs1553657430
rs1553657430
CTLA4
1.000 0.040 2 203870888 missense variant C/A snv
CUI: C4015214
Disease: CTLA4 Haploinsufficiency
CTLA4 Haploinsufficiency 		0.700 0
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C1833450
Disease: HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO
HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C1857845
Disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 3 (finding)
CELIAC DISEASE, SUSCEPTIBILITY TO, 3 (finding) 		0.700 0
dbSNP: rs606231422
rs606231422
CTLA4
1.000 0.040 2 203870684 missense variant C/T snv
CUI: C4015214
Disease: CTLA4 Haploinsufficiency
CTLA4 Haploinsufficiency 		0.700 0
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.100 0.875 16 1998 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.100 0.875 16 1999 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.100 0.900 10 2002 2018
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.090 1.000 9 2001 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.070 0.857 7 2008 2018