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: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing 		0.700 0
dbSNP: rs25409
rs25409
GABRB3 ; LOC112268151
0.882 0.080 15 26773694 missense variant G/A snv 2.9E-03 3.5E-03
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.020 1.000 2 2008 2011
dbSNP: rs71651682
rs71651682
GABRB3 ; LOC112268151
0.925 0.040 15 26772759 missense variant C/T snv
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.020 1.000 2 2008 2012
dbSNP: rs2070715
rs2070715
FGF1 ; SPRY4-AS1
1.000 5 142644691 intron variant T/C;G snv
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs548853
rs548853
NCBP2 ; NCBP2AS2 ; NCBP2-AS1
1.000 3 196941488 splice region variant C/A;T snv 0.53
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs57541735
rs57541735
TSSK3 ; FAM229A
1.000 1 32362000 missense variant G/A;C snv 4.6E-03
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs2272515
rs2272515
FSTL1 ; LOC100130701
0.882 0.080 3 120416036 intron variant T/C snv 0.36 0.34
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.010 1.000 1 2019 2019
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0267026
Disease: Actinic cheilitis
Actinic cheilitis 		0.010 1.000 1 2017 2017
dbSNP: rs2046934
rs2046934
P2RY12 ; MED12L
0.882 0.200 3 151339854 intron variant G/A;C snv
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs5065
rs5065
CLCN6 ; NPPA ; NPPA-AS1
0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		0.010 1.000 1 2019 2019
dbSNP: rs37972
rs37972
GLCCI1 ; UMAD1 ; GLCCI1-DT
0.851 0.160 7 7967878 3 prime UTR variant T/A;C snv
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		0.010 1.000 1 2015 2015
dbSNP: rs12402181
rs12402181
SGIP1 ; MIR3117
0.882 0.120 1 66628488 mature miRNA variant G/A snv 0.17 0.24
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2018 2018
dbSNP: rs861530
rs861530
KLC1 ; XRCC3 ; LOC112268131
0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2014 2014
dbSNP: rs1053874
rs1053874
DNASE1 ; TRAP1
0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2006 2006
dbSNP: rs2188554
rs2188554
CFTR ; ASZ1
1.000 0.080 7 117400063 intron variant A/G snv 0.20
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.700 1.000 1 2016 2016
dbSNP: rs13020391
rs13020391
PNKD ; LOC105373881
0.790 0.080 2 218319713 intron variant C/T snv 0.32
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 1.000 1 2019 2019
dbSNP: rs3731861
rs3731861
PNKD ; CATIP-AS2
0.776 0.080 2 218326533 intron variant T/C snv 0.32
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 1.000 1 2019 2019
dbSNP: rs73068325
rs73068325
MZF1 ; MZF1-AS1
0.776 0.080 19 58567729 intron variant C/T snv 0.18
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 1.000 1 2019 2019
dbSNP: rs1026411
rs1026411
PCAT1 ; LOC105375751
0.827 0.080 8 127014165 intron variant G/A;C snv 0.25
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2019 2019
dbSNP: rs1356083197
rs1356083197
WDR26 ; CNIH3
1.000 0.040 1 224434068 missense variant C/T snv 1.5E-05 1.4E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2006 2006
dbSNP: rs17400427
rs17400427
FGF7 ; FAM227B
1.000 0.040 15 49448874 intron variant T/C snv 0.20
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs7182948
rs7182948
FAM227B ; LOC105370811
1.000 0.040 15 49549483 intron variant A/C;G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2017 2017