Source: GWASDB

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: rs800292
rs800292
CFH
0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 0.980 4 2005 2019
dbSNP: rs2076530
rs2076530
0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.710 1.000 3 2005 2011
dbSNP: rs2476601
rs2476601
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0042900
Disease: Vitiligo
Vitiligo
0.860 0.900 3 2005 2018
dbSNP: rs380390
rs380390
CFH
0.925 0.160 1 196731921 intron variant G/A;C;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.810 1.000 3 2005 2013
dbSNP: rs6478109
rs6478109
0.752 0.320 9 114806486 upstream gene variant A/G snv 0.74
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.830 1.000 3 2005 2016
dbSNP: rs2476601
rs2476601
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.860 0.800 2 2005 2016
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 2 2005 2020
dbSNP: rs3810936
rs3810936
0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.850 1.000 2 2005 2018
dbSNP: rs6478106
rs6478106
0.925 0.080 9 114783386 downstream gene variant C/T snv 0.34
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.820 1.000 2 2005 2019
dbSNP: rs6478108
rs6478108
0.763 0.200 9 114796423 intron variant C/T snv 0.73
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.760 1.000 2 2005 2018
dbSNP: rs10117785
rs10117785
1.000 0.040 9 114789323 3 prime UTR variant T/A snv 0.34
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 1 2005 2005
dbSNP: rs1322054
rs1322054
1.000 0.040 9 114907019 intron variant A/G snv 0.58
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 1 2005 2005
dbSNP: rs16931910
rs16931910
1.000 0.040 9 114856029 intron variant A/C snv 7.2E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 1 2005 2005
dbSNP: rs1885383
rs1885383
1.000 0.040 9 114917522 intron variant G/A snv 0.21
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 1 2005 2005
dbSNP: rs2076530
rs2076530
0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40
Diabetes Mellitus, Insulin-Dependent
0.710 1.000 1 2005 2007
dbSNP: rs2076530
rs2076530
0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.900 0.933 1 2005 2019
dbSNP: rs2295800
rs2295800
1.000 0.040 9 114901931 intron variant T/C snv 0.56
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 1 2005 2005
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 1 2005 2019
dbSNP: rs2476601
rs2476601
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.900 0.857 1 2005 2019
dbSNP: rs2974
rs2974
1.000 0.040 9 114901892 intron variant T/C snv 0.56
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 1 2005 2005
dbSNP: rs3789879
rs3789879
1.000 0.040 9 114915956 intron variant T/C snv 0.58
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 1 2005 2005
dbSNP: rs3789882
rs3789882
1.000 0.040 9 114907419 intron variant A/T snv 0.22
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 1 2005 2005
dbSNP: rs4372078
rs4372078
1.000 0.040 9 114801407 intron variant T/G snv 0.78
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 1 2005 2005
dbSNP: rs4574921
rs4574921
0.882 0.160 9 114776054 upstream gene variant C/T snv 0.80
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 1 2005 2005
dbSNP: rs4979462
rs4979462
0.790 0.240 9 114804733 intron variant C/T snv 0.13
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.720 1.000 1 2005 2016