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 0.100 0.917 12 2006 2018
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.060 1.000 6 2009 2018
dbSNP: rs12086634
rs12086634
HSD11B1 ; HSD11B1-AS1
6 0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20 0.040 1.000 4 2011 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 1.000 4 2008 2016
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.030 0.333 3 2001 2011
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2014 2014
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.020 1.000 2 2006 2013
dbSNP: rs4641
rs4641
LMNA
6 0.851 0.120 1 156137743 splice region variant C/T snv 0.26 0.21 0.020 1.000 2 2007 2010
dbSNP: rs6688832
rs6688832
H6PD
10 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.020 1.000 2 2011 2019
dbSNP: rs8192284
rs8192284
IL6R
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.020 1.000 2 2012 2020
dbSNP: rs846910
rs846910
HSD11B1 ; HSD11B1-AS1
6 0.882 0.160 1 209701909 intron variant A/G snv 0.95 0.020 1.000 2 2011 2017
dbSNP: rs1000283
rs1000283
HSD11B1 ; HSD11B1-AS1
2 0.925 0.080 1 209721316 intron variant G/A snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs10746473
rs10746473
PER3
1 1.000 0.040 1 7817996 intron variant A/G snv 0.58 0.010 1.000 1 2017 2017
dbSNP: rs10920501
rs10920501 		5 0.827 0.120 1 190092815 downstream gene variant A/T snv 0.18 0.010 < 0.001 1 2013 2013
dbSNP: rs10920533
rs10920533
ADIPOR1
1 1.000 0.040 1 202956690 intron variant G/A snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs1200746244
rs1200746244
MTHFR
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 < 0.001 1 2011 2011
dbSNP: rs12083537
rs12083537
IL6R
4 0.882 0.200 1 154408627 intron variant A/G snv 0.22 0.010 1.000 1 2020 2020
dbSNP: rs1256046734
rs1256046734
LEPR
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs148446907
rs148446907
AGT
3 0.925 0.080 1 230710026 synonymous variant G/A;C snv 1.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs164147
rs164147
NOS1AP
3 0.882 0.080 1 162368607 3 prime UTR variant A/C snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs17368528
rs17368528
H6PD
5 0.827 0.400 1 9264154 missense variant C/A;T snv 0.12 8.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs1799821
rs1799821
CPT2
8 0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 0.010 1.000 1 2013 2013
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014