Source: BEFREE

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
0.547 0.750 1 113834946 missense variant A/G snp 0.93 0.92
Diabetes Mellitus, Insulin-Dependent
1.000 0.935 62 2005 2017
dbSNP: rs2476601
rs2476601
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 57 2004 2017
dbSNP: rs2066844
rs2066844
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 47 2002 2017
dbSNP: rs2066845
rs2066845
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 45 2002 2017
dbSNP: rs4402960
rs4402960
0.756 0.286 3 185793899 intron variant G/T snp 0.38
Diabetes Mellitus, Non-Insulin-Dependent
1.000 0.963 27 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 18 2011 2018
dbSNP: rs77375493
rs77375493
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 0.941 236 2005 2018
dbSNP: rs34637584
rs34637584
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 0.969 196 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 0.941 187 2005 2018
dbSNP: rs7903146
rs7903146
0.596 0.536 10 112998590 intron variant C/G,T snp 0.26
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.920 113 2006 2017
dbSNP: rs1801282
rs1801282
0.543 0.679 3 12351626 missense variant C/G snp 0.11 1.0E-01
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.915 106 1998 2017
dbSNP: rs10490924
rs10490924
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 86 2006 2018
dbSNP: rs738409
rs738409
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 73 2009 2018
dbSNP: rs5219
rs5219
0.734 0.250 11 17388025 missense variant T/A,C snp 0.64 0.71
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.961 51 1999 2017
dbSNP: rs1344706
rs1344706
0.769 0.071 2 184913701 intron variant A/C,T snp 0.31
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.900 0.938 48 2009 2017
dbSNP: rs12255372
rs12255372
0.679 0.357 10 113049143 intron variant G/A,T snp 0.24
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.894 47 2006 2017
dbSNP: rs12979860
rs12979860
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 45 2009 2018
dbSNP: rs34778348
rs34778348
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 45 2007 2017
dbSNP: rs28931614
rs28931614
0.744 0.179 4 1804392 missense variant G/A,C snp
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 0.955 44 1994 2018
dbSNP: rs61752717
rs61752717
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 42 1993 2017
dbSNP: rs3825942
rs3825942
0.769 0.286 15 73927241 missense variant G/A,C,T snp 0.18; 4.5E-06 0.22
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
0.900 0.950 40 2007 2016
dbSNP: rs75527207
rs75527207
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 40 1990 2018
dbSNP: rs11200638
rs11200638
0.784 0.143 10 122461028 regulatory region variant G/A snp 0.25
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 0.897 39 2006 2018
dbSNP: rs13266634
rs13266634
0.784 0.286 8 117172544 missense variant C/A,T snp 0.29 0.27
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.949 39 2007 2018
dbSNP: rs2241880
rs2241880
0.662 0.393 2 233274722 missense variant A/G snp 0.45 0.43
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 0.917 36 2007 2016