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: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.020 0.500 2 2014 2019
dbSNP: rs879761216
rs879761216
CNR2
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.020 0.500 2 2014 2019
dbSNP: rs71559680
rs71559680 		6 0.827 0.120 6 21430497 intergenic variant TAG/CAT mnv 0.700 1.000 2 2015 2017
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 1999 2001
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.040 1.000 4 2008 2015
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 0.667 3 2014 2017
dbSNP: rs1819333
rs1819333 		2 1.000 0.040 6 166960059 upstream gene variant T/G snv 0.57 0.800 1.000 3 2012 2017
dbSNP: rs7517847
rs7517847
IL23R ; C1orf141
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.720 1.000 3 2006 2010
dbSNP: rs34779708
rs34779708
CREM
6 0.827 0.120 10 35177257 intron variant T/G snv 0.33 0.700 1.000 2 2015 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2005 2006
dbSNP: rs2189234
rs2189234
TET2
3 1.000 0.040 4 105154341 intron variant T/G snv 0.62 0.700 1.000 1 2015 2015
dbSNP: rs2315008
rs2315008
ZGPAT
4 0.925 0.120 20 63712604 intron variant T/G snv 0.70 0.800 1.000 1 2008 2008
dbSNP: rs3776414
rs3776414
DAP
6 0.827 0.120 5 10689450 intron variant T/G snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs4243971
rs4243971 		6 0.827 0.120 20 32261714 intergenic variant T/G snv 0.64 0.700 1.000 1 2015 2015
dbSNP: rs4911259
rs4911259
DNMT3B
1 20 32788476 intron variant T/G snv 0.42 0.800 1.000 1 2012 2012
dbSNP: rs11742570
rs11742570 		3 0.925 0.040 5 40410482 upstream gene variant T/C;G snv 0.800 1.000 2 2012 2017
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 2 2015 2017
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.020 0.500 2 2014 2019
dbSNP: rs1142345
rs1142345
TPMT
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs1405655
rs1405655
NR1H2
3 0.925 0.120 19 50379362 intron variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs2179070
rs2179070
TRAF3IP2 ; TRAF3IP2-AS1
1 6 111564549 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs2243639
rs2243639
SFTPD
4 0.882 0.080 10 79941966 missense variant T/C;G snv 0.66 0.010 1.000 1 2011 2011
dbSNP: rs36221701
rs36221701
SMAD3 ; LOC102723493
1 15 67064151 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs6716753
rs6716753
SP140
2 1.000 0.040 2 230232414 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs7097656
rs7097656
TSPAN14
6 0.827 0.120 10 80491075 intron variant T/C;G snv 0.700 1.000 1 2015 2015