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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2020
dbSNP: rs4908760
rs4908760
RERE
1 1.000 0.040 1 8466082 intron variant G/A snv 0.68 0.800 1.000 2 2010 2012
dbSNP: rs532098
rs532098
HLA-DRB1
3 0.882 0.120 6 32610275 intergenic variant G/A snv 0.43 0.700 1.000 2 2010 2012
dbSNP: rs59374417
rs59374417 		2 0.925 0.040 3 119569567 intergenic variant A/C;T snv 0.810 1.000 2 2012 2015
dbSNP: rs638893
rs638893 		4 0.882 0.080 11 118827828 intergenic variant G/A snv 0.79 0.820 1.000 2 2013 2017
dbSNP: rs6902119
rs6902119
FGFR1OP
3 0.882 0.160 6 167092303 intron variant T/C;G snv 0.700 1.000 2 2010 2012
dbSNP: rs9271597
rs9271597 		3 0.925 0.080 6 32623514 upstream gene variant T/A snv 0.39 0.700 1.000 2 2016 2019
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10155912
rs10155912
PARP12
1 1.000 0.040 7 140058921 intron variant A/C snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs10200159
rs10200159
PPP4R3B ; LOC107985885
1 1.000 0.040 2 55617974 non coding transcript exon variant T/C snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs10249788
rs10249788
AHR ; LOC101927609
6 0.827 0.160 7 17298523 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10250629
rs10250629
SPATA48
1 1.000 0.040 7 50151757 intron variant T/C snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs1031034
rs1031034
PPP3CA
1 1.000 0.040 4 101302229 intron variant C/A snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs1041981
rs1041981
LTA ; LOC100287329
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2013 2013
dbSNP: rs1043101
rs1043101
SLC1A2
1 1.000 0.040 11 35253282 3 prime UTR variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10431924
rs10431924
CDH1
3 0.882 0.120 16 68805399 intron variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs1043210477
rs1043210477
GPX1
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs10484554
rs10484554
HLA-B ; LOC112267902
11 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs10503019
rs10503019
ATP8B1
2 0.925 0.040 18 57787145 intron variant G/A snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs10768122
rs10768122
SLC1A2
1 1.000 0.040 11 35259305 3 prime UTR variant A/G snv 0.33 0.800 1.000 1 2012 2012
dbSNP: rs10774624
rs10774624
LINC02356
6 0.882 0.160 12 111395984 intron variant G/A snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs1079541
rs1079541 		1 1.000 0.040 6 30438979 intergenic variant C/A snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs10876864
rs10876864
IKZF4
5 0.882 0.120 12 56007301 upstream gene variant G/A snv 0.50 0.810 1.000 1 2013 2013
dbSNP: rs10986311
rs10986311
NEK6
1 1.000 0.040 9 124309214 intron variant T/C snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs11079035
rs11079035
RAB5C
3 1.000 0.040 17 42136994 intron variant G/A snv 0.29 0.700 1.000 1 2016 2016