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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.547 0.750 1 113834946 missense variant A/G snp 0.93 0.92
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		1.000 0.877 83 2004 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.547 0.750 1 113834946 missense variant A/G snp 0.93 0.92
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		1.000 0.935 69 2005 2017
dbSNP: rs2066844
rs2066844
NOD2
0.638 0.500 16 50712015 missense variant C/T snp 2.6E-02 2.4E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		1.000 0.894 50 2002 2017
dbSNP: rs2066845
rs2066845
NOD2
0.662 0.429 16 50722629 missense variant G/C,T snp 1.1E-02; 2.2E-04 7.8E-03; 3.2E-05
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		1.000 0.933 49 2002 2017
dbSNP: rs4402960
rs4402960
IGF2BP2
0.756 0.286 3 185793899 intron variant G/T snp 0.38
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 0.963 37 2007 2015
dbSNP: rs35705950
rs35705950 		0.821 0.071 11 1219991 regulatory region variant G/A,T snp 2.6E-04; 7.7E-02
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		1.000 1.000 21 2011 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.900 0.941 237 2005 2018
dbSNP: rs34637584
rs34637584
LRRK2
0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.900 0.969 198 2005 2018
dbSNP: rs1061170
rs1061170
CFH
0.575 0.607 1 196690107 missense variant C/T snp 0.68 0.63
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.900 0.941 191 2005 2018
dbSNP: rs7903146
rs7903146
TCF7L2
0.596 0.536 10 112998590 intron variant C/G,T snp 0.26
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.920 138 2006 2017
dbSNP: rs1801282
rs1801282
PPARG
0.543 0.679 3 12351626 missense variant C/G snp 0.11 1.0E-01
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.915 109 1998 2017
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
0.744 0.143 10 122454932 missense variant G/T snp 0.26 0.25
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.900 0.988 97 2006 2018
dbSNP: rs738409
rs738409
PNPLA3
0.590 0.536 22 43928847 missense variant C/G snp 0.28 0.22
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.900 0.945 75 2009 2018
dbSNP: rs75527207
rs75527207
CFTR
0.821 0.107 7 117587806 missense variant G/A snp 1.8E-04 2.2E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 0.950 72 1990 2018
dbSNP: rs61752717
rs61752717
MEFV
0.667 0.607 16 3243407 missense variant T/A,C snp 2.8E-04 1.9E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.900 0.929 63 1993 2017
dbSNP: rs78655421
rs78655421
CFTR
0.801 0.214 7 117530975 stop gained G/A,C,T snp 1.5E-03; 1.2E-05 1.1E-03; 3.2E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 0.882 59 1990 2017
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
0.784 0.286 8 117172544 missense variant C/A,T snp 0.29 0.27
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.949 55 2007 2018
dbSNP: rs28931614
rs28931614
FGFR3
0.744 0.179 4 1804392 missense variant G/A,C snp
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.900 0.955 55 1994 2018
dbSNP: rs5219
rs5219
KCNJ11
0.734 0.250 11 17388025 missense variant T/A,C snp 0.64 0.71
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.961 54 1999 2017
dbSNP: rs12255372
rs12255372
TCF7L2
0.679 0.357 10 113049143 intron variant G/A,T snp 0.24
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.894 53 2006 2017
dbSNP: rs1344706
rs1344706
ZNF804A
0.769 0.071 2 184913701 intron variant A/C,T snp 0.31
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.900 0.938 49 2009 2017
dbSNP: rs76151636
rs76151636
ATP7B
0.878 0.179 13 51944145 missense variant G/A,T snp 4.0E-06; 9.2E-04 1.8E-03
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.900 0.923 48 1993 2017
dbSNP: rs12979860
rs12979860
IFNL4
0.608 0.500 19 39248147 intron variant C/T snp 0.38
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		0.900 1.000 47 2009 2018
dbSNP: rs28933385
rs28933385
PRNP
0.707 0.286 20 4699818 missense variant G/A snp 4.0E-06
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.900 0.964 46 1989 2016
dbSNP: rs34778348
rs34778348
LRRK2 ; LOC105369736
0.769 0.143 12 40363526 missense variant G/A snp 1.7E-03 1.4E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.900 0.911 46 2007 2017