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: 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: C0030804
Disease: Pemphigoid, Benign Mucous Membrane
Pemphigoid, Benign Mucous Membrane 		0.010 1.000 1 2000 2000
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0085932
Disease: Bullous Dermatitis
Bullous Dermatitis 		0.010 1.000 1 2000 2000
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid 		0.010 1.000 1 2000 2000
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.010 1.000 1 2003 2003
dbSNP: rs1205829960
rs1205829960
CTLA4
0.925 0.160 2 203872753 missense variant C/G snv 7.0E-06
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		0.010 1.000 1 2004 2004
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases 		0.010 1.000 1 2004 2004
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.010 1.000 1 2004 2004
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		0.010 1.000 1 2005 2005
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0040021
Disease: Thromboangiitis Obliterans
Thromboangiitis Obliterans 		0.010 < 0.001 1 2005 2005
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.010 1.000 1 2006 2006
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		0.010 1.000 1 2006 2006
dbSNP: rs370443546
rs370443546
CTLA4
1.000 0.120 2 203870744 missense variant A/G snv 4.0E-06 2.8E-05
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.020 1.000 2 2006 2007
dbSNP: rs1207011218
rs1207011218
CTLA4
0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma 		0.010 1.000 1 2007 2007
dbSNP: rs1207011218
rs1207011218
CTLA4
0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		0.010 1.000 1 2007 2007
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2007 2007
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs765325921
rs765325921
CTLA4
1.000 0.120 2 203870635 synonymous variant C/T snv 4.0E-06
CUI: C0205734
Disease: Diabetes, Autoimmune
Diabetes, Autoimmune 		0.010 1.000 1 2007 2007
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		0.030 0.333 3 2003 2008
dbSNP: rs1205829960
rs1205829960
CTLA4
0.925 0.160 2 203872753 missense variant C/G snv 7.0E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2008 2008
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		0.010 1.000 1 2008 2008