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: rs10864459
rs10864459
PEX14
1 1.000 0.080 1 10503552 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10912580
rs10912580
TNFSF4 ; LOC100506023
3 0.882 0.080 1 173287411 intergenic variant A/G snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs10923574
rs10923574 		1 1.000 0.080 1 118488075 regulatory region variant A/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11117758
rs11117758
ESRRG
1 1.000 0.080 1 217047232 intron variant G/A snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs11205303
rs11205303
MTMR11
9 0.882 0.120 1 149934520 missense variant T/C snv 0.33 0.29 0.700 1.000 1 2017 2017
dbSNP: rs11264454
rs11264454 		1 1.000 0.080 1 156183252 intergenic variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs114101502
rs114101502
TUT4
2 0.925 0.080 1 52459928 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs11583393
rs11583393
LOC101927871 ; PKN2-AS1
1 1.000 0.080 1 87963341 intron variant C/A snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs116197192
rs116197192
MDM4
2 0.925 0.080 1 204538255 missense variant A/G snv 4.4E-04 4.7E-04 0.010 1.000 1 2008 2008
dbSNP: rs1172398253
rs1172398253
CCN1
4 0.925 0.080 1 85582045 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs11801299
rs11801299
LOC105371692
9 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 0.010 < 0.001 1 2018 2018
dbSNP: rs11807619
rs11807619
HSD11B1 ; HSD11B1-AS1
2 0.925 0.080 1 209708028 intron variant G/T snv 0.17 0.010 1.000 1 2008 2008
dbSNP: rs1194591889
rs1194591889
AGT
2 0.925 0.080 1 230710112 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 1.000 1 2018 2018
dbSNP: rs12077974
rs12077974
MAST2
1 1.000 0.080 1 45918469 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs12091730
rs12091730
DAP3P1
1 1.000 0.080 1 155587180 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs12118297
rs12118297 		2 0.925 0.080 1 87313534 intergenic variant G/T snv 0.19 0.710 1.000 1 2016 2016
dbSNP: rs12121543
rs12121543
MTHFR
4 0.851 0.240 1 11794614 intron variant C/A snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs12125777
rs12125777
MTOR
2 0.925 0.080 1 11261608 intron variant C/T snv 5.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs12142375
rs12142375
PDE4B
2 0.925 0.080 1 66281101 intron variant G/A snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs12239582
rs12239582
ST6GALNAC3
2 0.925 0.080 1 76371552 intron variant A/C snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs1230666
rs1230666
MAGI3
2 0.925 0.200 1 113630788 intron variant A/G snv 0.90 0.700 1.000 1 2017 2017
dbSNP: rs1256046734
rs1256046734
LEPR
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.010 < 0.001 1 2017 2017