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: rs2066844
rs2066844
0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 0.940 75 2001 2018
dbSNP: rs2476601
rs2476601
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
Diabetes Mellitus, Insulin-Dependent
1.000 0.950 73 2004 2020
dbSNP: rs2066845
rs2066845
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 0.949 69 2001 2019
dbSNP: rs2476601
rs2476601
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 0.877 68 2005 2019
dbSNP: rs13266634
rs13266634
0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
Diabetes Mellitus, Non-Insulin-Dependent
1.000 0.973 57 2007 2019
dbSNP: rs4402960
rs4402960
0.724 0.400 3 185793899 intron variant G/T snv 0.38
Diabetes Mellitus, Non-Insulin-Dependent
1.000 0.977 32 2007 2018
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 0.960 273 2005 2019
dbSNP: rs34637584
rs34637584
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 0.996 258 2005 2020
dbSNP: rs1800562
rs1800562
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 0.976 221 1996 2019
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 0.936 214 2005 2019
dbSNP: rs7903146
rs7903146
0.554 0.680 10 112998590 intron variant C/G;T snv
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.953 160 2006 2020
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 0.975 150 2004 2020
dbSNP: rs738409
rs738409
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.900 0.953 146 2009 2020
dbSNP: rs1801282
rs1801282
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.902 118 1997 2018
dbSNP: rs2476601
rs2476601
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 0.980 98 2005 2019
dbSNP: rs10490924
rs10490924
0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 0.979 87 2006 2019
dbSNP: rs75527207
rs75527207
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 0.980 69 1990 2020
dbSNP: rs61752717
rs61752717
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.900 0.988 63 1997 2020
dbSNP: rs1344706
rs1344706
0.701 0.160 2 184913701 intron variant A/C;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.900 0.873 62 2008 2019
dbSNP: rs12255372
rs12255372
0.667 0.480 10 113049143 intron variant G/A;T snv
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.908 60 2006 2020
dbSNP: rs5219
rs5219
0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.906 60 1998 2019
dbSNP: rs34778348
rs34778348
0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 0.925 52 2006 2019
dbSNP: rs75932628
rs75932628
0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 0.923 52 2013 2020
dbSNP: rs28931614
rs28931614
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 0.981 50 1994 2020
dbSNP: rs11200638
rs11200638
0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 0.900 49 2006 2019