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: rs1800925
rs1800925
IL13 ; TH2LCRR
0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv
CUI: C0004096
Disease: Asthma
Asthma 		0.090 0.889 9 2007 2018
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 1.000 6 2011 2017
dbSNP: rs37973
rs37973
GLCCI1 ; GLCCI1-DT
0.807 0.280 7 7968245 intron variant G/A;C snv
CUI: C0004096
Disease: Asthma
Asthma 		0.060 0.667 6 2015 2019
dbSNP: rs121908415
rs121908415
ACTN4 ; LOC107985291
0.925 0.080 19 38710286 missense variant A/G snv 7.0E-06
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.050 1.000 5 2008 2019
dbSNP: rs1799732
rs1799732
DRD2 ; LOC105369501
0.790 0.160 11 113475529 intron variant -/G delins
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.050 1.000 5 2007 2019
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.050 0.400 5 2008 2018
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2011 2017
dbSNP: rs2832407
rs2832407
BACH1 ; GRIK1 ; GRIK1-AS2
0.925 0.080 21 29595188 intron variant C/A;T snv
CUI: C0687132
Disease: heavy drinking
heavy drinking 		0.040 1.000 4 2014 2014
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.040 1.000 4 2014 2016
dbSNP: rs37972
rs37972
GLCCI1 ; UMAD1 ; GLCCI1-DT
0.851 0.160 7 7967878 3 prime UTR variant T/A;C snv
CUI: C0004096
Disease: Asthma
Asthma 		0.040 0.750 4 2014 2019
dbSNP: rs121908388
rs121908388
CYLD ; LOC105371251
0.925 0.120 16 50792627 stop gained C/T snv
CUI: C1305968
Disease: Eccrine dermal cylindroma
Eccrine dermal cylindroma 		0.030 1.000 3 2004 2016
dbSNP: rs1701704
rs1701704
IKZF4 ; LOC105369781
0.851 0.200 12 56018703 intron variant T/G snv 0.25
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.830 1.000 3 2008 2013
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.030 1.000 3 2009 2011
dbSNP: rs2221903
rs2221903
IL21 ; IL21-AS1
0.752 0.360 4 122617757 intron variant C/T snv 0.77
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 1.000 3 2008 2015
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.030 1.000 3 2013 2017
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.030 1.000 3 2016 2019
dbSNP: rs28938168
rs28938168
FXYD2 ; FXYD6-FXYD2
1.000 0.160 11 117822424 missense variant C/T snv
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia 		0.030 1.000 3 2003 2015
dbSNP: rs35594137
rs35594137
GJA5 ; LOC102723321
1.000 0.080 1 147773393 upstream gene variant C/A;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.030 1.000 3 2011 2019
dbSNP: rs5068
rs5068
CLCN6 ; NPPA ; NPPA-AS1
0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 1.000 3 2009 2017
dbSNP: rs1002765
rs1002765
CHMP2B ; MIR4795
0.851 0.080 3 87227912 intron variant G/A;C snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 1.000 2 2016 2017
dbSNP: rs1002765
rs1002765
CHMP2B ; MIR4795
0.851 0.080 3 87227912 intron variant G/A;C snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 1.000 2 2016 2017
dbSNP: rs1044845711
rs1044845711
ADAR ; CHRNB2
1.000 0.080 1 154585024 missense variant G/A snv 7.0E-06
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.720 1.000 2 2005 2013
dbSNP: rs1055679036
rs1055679036
PRDX2 ; RNASEH2A ; HOOK2
1.000 0.120 19 12800207 missense variant A/G snv
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		0.020 1.000 2 2018 2019
dbSNP: rs10997477
rs10997477
CTNNA3 ; LRRTM3 ; LOC101928961
1.000 0.080 10 67000961 intron variant C/T snv 0.31
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.020 1.000 2 2012 2014
dbSNP: rs121908416
rs121908416
ACTN4 ; LOC107985291
0.925 0.080 19 38710299 missense variant C/T snv
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.020 1.000 2 2008 2019