Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12688220
rs12688220
MORC4
5 0.827 0.200 X 107001537 upstream gene variant C/T snv 0.19 0.040 0.750 4 2015 2020
dbSNP: rs7057398
rs7057398
CLDN2 ; MORC4 ; RIPPLY1
5 0.827 0.080 X 106901299 intron variant T/C snv 0.41 0.020 1.000 2 2015 2015
dbSNP: rs12008279
rs12008279
CLDN2 ; MORC4
3 0.882 0.080 X 106917472 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4409525
rs4409525
MORC4
2 0.925 0.040 X 106897095 intron variant G/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs6622126
rs6622126
MORC4
4 0.851 0.080 X 106956972 missense variant G/A snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 < 0.001 1 2012 2012
dbSNP: rs777418530
rs777418530
CRISPLD2
10 0.763 0.120 16 84845883 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2002 2010
dbSNP: rs1413293653
rs1413293653
CRISPLD2
1 1.000 0.040 16 84866923 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs775626498
rs775626498
CRISPLD2
1 1.000 0.040 16 84850577 missense variant G/A snv 0.010 < 0.001 1 2010 2010
dbSNP: rs1303
rs1303
SERPINA1
4 0.925 0.040 14 94378506 missense variant T/G snv 0.28 0.22 0.010 1.000 1 2002 2002
dbSNP: rs11554495
rs11554495
KRT8
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.020 1.000 2 2003 2006
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11568818
rs11568818
MMP7
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2013 2013
dbSNP: rs2995271
rs2995271
LOC101929279
2 0.925 0.040 10 30230903 regulatory region variant C/T snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs4751995
rs4751995
PNLIPRP2
1 1.000 0.040 10 116638373 splice acceptor variant A/G;T snv 0.49 0.55 0.010 1.000 1 2018 2018
dbSNP: rs142022985
rs142022985
PRSS3 ; UBE2R2-AS1
1 1.000 0.040 9 33798530 missense variant A/G snv 1.2E-03 1.5E-03 0.010 < 0.001 1 2010 2010
dbSNP: rs118204082
rs118204082
LPL
4 0.851 0.120 8 19955863 missense variant C/G;T snv 1.5E-04 0.010 1.000 1 2000 2000
dbSNP: rs11988997
rs11988997
SAMD12-AS1
1 1.000 0.040 8 118753955 intron variant C/T snv 7.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs371282890
rs371282890
LPL
6 0.827 0.120 8 19955900 missense variant C/G snv 1.1E-04 6.3E-05 0.010 1.000 1 2016 2016
dbSNP: rs587777636
rs587777636
GPIHBP1
4 0.882 0.080 8 143213935 missense variant G/A;C snv 6.5E-06 0.010 1.000 1 2007 2007
dbSNP: rs747940576
rs747940576
CTSB
4 0.882 0.120 8 11853351 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs761886494
rs761886494
LPL
3 0.925 0.040 8 19955870 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs762727745
rs762727745
CTSB
1 1.000 0.040 8 11847803 synonymous variant G/A snv 1.7E-05 0.010 1.000 1 2013 2013
dbSNP: rs773891125
rs773891125
LPL
6 0.827 0.120 8 19955896 frameshift variant CT/- delins 0.010 1.000 1 2016 2016