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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2005 2020
dbSNP: rs3790844
rs3790844
NR5A2
4 0.882 0.200 1 200038304 intron variant A/C;G snv 0.730 1.000 5 2010 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.600 5 2005 2020
dbSNP: rs1037189404
rs1037189404
MUC1
8 0.776 0.280 1 155187519 missense variant C/T snv 0.020 1.000 2 2012 2015
dbSNP: rs2816938
rs2816938 		2 1.000 0.120 1 200016240 upstream gene variant T/A snv 0.37 0.700 1.000 2 2016 2018
dbSNP: rs3790843
rs3790843
NR5A2
7 0.827 0.160 1 200041696 intron variant C/T snv 0.29 0.020 1.000 2 2015 2018
dbSNP: rs766333007
rs766333007
MUC1
8 0.776 0.280 1 155192274 missense variant C/T snv 7.0E-06 0.020 1.000 2 2012 2015
dbSNP: rs1034925236
rs1034925236
NR5A2
2 0.925 0.120 1 200048258 missense variant G/C snv 0.010 1.000 1 2011 2011
dbSNP: rs10919791
rs10919791 		2 0.925 0.240 1 199996040 intergenic variant G/A snv 0.22 0.700 1.000 1 2014 2014
dbSNP: rs1194611372
rs1194611372
S100A11
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs12029406
rs12029406 		3 0.882 0.120 1 199936700 intergenic variant C/T snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs1209809979
rs1209809979
AKR1A1
3 0.925 0.120 1 45568989 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1326889
rs1326889
LOC105373166
1 1.000 0.120 1 230727252 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs13303010
rs13303010
NOC2L ; KLHL17
2 0.925 0.120 1 959193 intron variant G/A snv 0.82 0.69 0.710 < 0.001 1 2018 2018
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs16861827
rs16861827
IGSF21
1 1.000 0.120 1 18351676 intron variant C/T snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.010 1.000 1 2009 2009
dbSNP: rs351365
rs351365
WNT2B
1 1.000 0.120 1 112503773 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs486907
rs486907
RNASEL
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.010 < 0.001 1 2005 2005
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs6662005
rs6662005
ERO1B
1 1.000 0.120 1 236276616 intron variant G/A snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs74315364
rs74315364
RNASEL
13 0.732 0.200 1 182586014 stop gained C/A snv 3.6E-03; 4.0E-06 3.3E-03 0.010 1.000 1 2005 2005
dbSNP: rs747601652
rs747601652
CRYZ
2 0.925 0.120 1 74723233 missense variant A/G snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs78303930
rs78303930
NES
4 0.925 0.120 1 156670593 missense variant C/A;G snv 4.0E-06; 2.4E-03 0.010 < 0.001 1 2019 2019