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: rs773891125
rs773891125
LPL
0.827 0.120 8 19955896 frameshift variant CT/- delins
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2014 2014
dbSNP: rs111033565
rs111033565
PRSS1
0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.030 1.000 3 2006 2012
dbSNP: rs1143634
rs1143634
IL1B
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.020 0.500 2 2013 2015
dbSNP: rs61734659
rs61734659
PRSS2
0.790 0.160 7 142774035 missense variant G/A snv 1.4E-02
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.020 1.000 2 2009 2011
dbSNP: rs1052571
rs1052571
CASP9
0.882 0.080 1 15524118 missense variant G/A snv 0.50 0.59
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2017 2017
dbSNP: rs11209026
rs11209026
IL23R
0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2019 2019
dbSNP: rs139635080
rs139635080
PRSS3 ; UBE2R2-AS1
1.000 0.040 9 33798602 missense variant G/A snv
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2011 2011
dbSNP: rs145657341
rs145657341
LPL
0.925 0.120 8 19951811 missense variant G/A snv 1.7E-04 7.0E-05
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2014 2014
dbSNP: rs146966861
rs146966861
PRSS3 ; UBE2R2-AS1
1.000 0.040 9 33797993 missense variant G/A snv
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2011 2011
dbSNP: rs1490931437
rs1490931437
TP53
0.925 0.120 17 7673260 missense variant G/A snv
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2017 2017
dbSNP: rs1800629
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2019 2019
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2019 2019
dbSNP: rs752688735
rs752688735
PRSS1
0.925 0.040 7 142752547 missense variant G/A snv
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2011 2011
dbSNP: rs764176833
rs764176833
PRSS2
0.925 0.040 7 142773430 missense variant G/A snv
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2011 2011
dbSNP: rs78655421
rs78655421
CFTR
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2019 2019
dbSNP: rs9904341
rs9904341
BIRC5
0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2015 2015
dbSNP: rs748405415
rs748405415
PRSS2
0.790 0.160 7 142773993 stop gained G/A;T snv
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.020 1.000 2 2009 2011
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 < 0.001 1 2013 2013
dbSNP: rs267606982
rs267606982
PRSS1
0.742 0.120 7 142751938 missense variant GC/AT mnv
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.030 1.000 3 2006 2012
dbSNP: rs756271986
rs756271986
PRSS2
0.925 0.040 7 142773430 missense variant GC/AT mnv
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2011 2011
dbSNP: rs10273639
rs10273639
PRSS1
0.776 0.280 7 142749077 upstream gene variant T/A;C snv
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.030 1.000 3 2017 2020
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.080 0.875 8 2005 2015
dbSNP: rs1800896
rs1800896
IL10 ; IL19
0.507 0.800 1 206773552 intron variant T/C snv 0.41
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.030 0.667 3 2013 2017
dbSNP: rs7057398
rs7057398
CLDN2 ; MORC4 ; RIPPLY1
0.827 0.080 X 106901299 intron variant T/C snv 0.41
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.020 1.000 2 2018 2020
dbSNP: rs4251961
rs4251961
IL1RN
0.763 0.200 2 113116890 intron variant T/C snv 0.29
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 1.000 1 2018 2018