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: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs231777
rs231777
CTLA4
0.925 0.120 2 203868865 intron variant T/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2011 2011
dbSNP: rs231777
rs231777
CTLA4
0.925 0.120 2 203868865 intron variant T/A;C snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.010 1.000 1 2011 2011
dbSNP: rs231779
rs231779
CTLA4
0.827 0.160 2 203869764 intron variant C/T snv 0.41
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.010 1.000 1 2011 2011
dbSNP: rs231779
rs231779
CTLA4
0.827 0.160 2 203869764 intron variant C/T snv 0.41
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2011 2011
dbSNP: rs231779
rs231779
CTLA4
0.827 0.160 2 203869764 intron variant C/T snv 0.41
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2011 2011
dbSNP: rs231779
rs231779
CTLA4
0.827 0.160 2 203869764 intron variant C/T snv 0.41
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.010 1.000 1 2011 2011
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: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2011 2011
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2011 2011
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2011 2011
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: rs4553808
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2011 2011
dbSNP: rs4553808
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2011 2011
dbSNP: rs4553808
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 1.000 1 2011 2011
dbSNP: rs4553808
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 1.000 1 2011 2011
dbSNP: rs4553808
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2011 2011
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2011 2011
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2011 2011
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2011 2011
dbSNP: rs60872763
rs60872763
CTLA4
1.000 0.040 2 203873328 3 prime UTR variant ATATATATATATATATATATATATATATATATATATATATATATAT/-;ATAT;ATATAT;ATATATAT;ATATATATAT;ATATATATATAT;ATATATATATATAT;ATATATATATATATAT;ATATATATATATATATAT;ATATATATATATATATATAT;ATATATATATATATATATATAT;ATATATATATATATATATATATAT;ATATATATATATATATATATATATAT;ATATATATATATATATATATATATATAT;ATATATATATATATATATATATATATATAT;ATATATATATATATATATATATATATATATAT;ATATATATATATATATATATATATATATATATAT;ATATATATATATATATATATATATATATATATATAT;ATATATATATATATATATATATATATATATATATATAT;ATATATATATATATATATATATATATATATATATATATAT;ATATATATATATATATATATATATATATATATATATATATAT;ATATATATATATATATATATATATATATATATATATATATATAT;ATATATATATATATATATATATATATATATATATATATATATATATAT;ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT delins
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2011 2011
dbSNP: rs733618
rs733618
CTLA4
0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10
CUI: C0013884
Disease: Filarial Elephantiases
Filarial Elephantiases 		0.010 1.000 1 2011 2011
dbSNP: rs11571316
rs11571316
CTLA4
0.925 0.160 2 203866366 upstream gene variant G/A;C snv
CUI: C0036323
Disease: Schistosomiasis
Schistosomiasis 		0.010 1.000 1 2012 2012
dbSNP: rs11571317
rs11571317
CTLA4
0.882 0.160 2 203867285 upstream gene variant C/T snv 5.2E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.010 1.000 1 2012 2012