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: 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 50 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 49 2002 2017
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 69 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 83 2004 2017
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: rs4402960
rs4402960
0.756 0.286 3 185793899 intron variant G/T snp 0.38
Diabetes Mellitus, Non-Insulin-Dependent
1.000 0.963 37 2007 2015
dbSNP: rs1006737
rs1006737
0.679 0.107 12 2236129 intron variant G/A snp 0.37
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.900 1.000 24 2010 2017
dbSNP: rs1006737
rs1006737
0.679 0.107 12 2236129 intron variant G/A snp 0.37
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.900 0.864 27 2009 2017
dbSNP: rs104894229
rs104894229
0.634 0.500 11 534289 missense variant C/A,G,T snp
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
0.900 1.000 31 2005 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 97 2006 2018
dbSNP: rs1051730
rs1051730
0.715 0.250 15 78601997 synonymous variant G/A snp 0.27 0.26
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.900 1.000 16 2008 2013
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: rs10811661
rs10811661
0.846 0.214 9 22134095 intergenic variant T/C snp 0.14
Diabetes Mellitus, Non-Insulin-Dependent
0.900 1.000 31 2007 2017
dbSNP: rs10830963
rs10830963
0.846 0.179 11 92975544 intron variant C/G snp 0.24
Diabetes Mellitus, Non-Insulin-Dependent
0.900 1.000 22 2009 2017
dbSNP: rs10993994
rs10993994
0.801 0.143 10 46046326 intergenic variant A/G snp 0.56
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.900 1.000 28 2008 2018
dbSNP: rs10994336
rs10994336
0.769 0.143 10 60420054 intron variant C/T snp 8.6E-02
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.900 0.818 14 2009 2017
dbSNP: rs1111875
rs1111875
0.878 0.107 10 92703125 intergenic variant C/T snp 0.38
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.952 30 2007 2017
dbSNP: rs11136000
rs11136000
CLU
0.744 0.179 8 27607002 intron variant T/C snp 0.57
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 0.929 16 2009 2016
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 41 2006 2018
dbSNP: rs11209026
rs11209026
0.673 0.321 1 67240275 missense variant G/A snp 4.2E-02 4.5E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.900 0.875 31 2006 2016
dbSNP: rs11209026
rs11209026
0.673 0.321 1 67240275 missense variant G/A snp 4.2E-02 4.5E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.900 0.800 18 2006 2015
dbSNP: rs11209026
rs11209026
0.673 0.321 1 67240275 missense variant G/A snp 4.2E-02 4.5E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.900 0.800 12 2008 2016
dbSNP: rs113488022
rs113488022
0.407 0.786 7 140753336 missense variant snp 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.900 0.880 34 2002 2016
dbSNP: rs1143679
rs1143679
0.756 0.393 16 31265490 missense variant G/A snp 9.7E-02 0.11
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 1.000 18 2009 2017
dbSNP: rs118192172
rs118192172
0.784 0.107 19 38457545 missense variant C/T snp 8.7E-05 2.6E-04
Malignant hyperpyrexia due to anesthesia
0.900 1.000 14 1992 2014