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 0.900 10 2003 2019
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.040 0.750 4 2013 2019
dbSNP: rs12086634
rs12086634
HSD11B1 ; HSD11B1-AS1
6 0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20 0.030 1.000 3 2006 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2012 2019
dbSNP: rs6688832
rs6688832
H6PD
10 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.030 1.000 3 2005 2015
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2002 2002
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2017 2017
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1539355
rs1539355
ADIPOR1
1 1.000 0.120 1 202954952 intron variant A/G snv 0.33 0.010 1.000 1 2014 2014
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 2015 2015
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
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: rs1867265
rs1867265
CHRM3
1 1.000 0.120 1 239676807 intron variant C/T snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs2815752
rs2815752
LOC105378797
7 0.925 0.200 1 72346757 intron variant G/A snv 0.62 0.010 < 0.001 1 2011 2011
dbSNP: rs324420
rs324420
FAAH
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 < 0.001 1 2013 2013
dbSNP: rs34603401
rs34603401
H6PD
4 0.882 0.280 1 9245386 missense variant A/C snv 0.12 0.10 0.010 1.000 1 2012 2012
dbSNP: rs3753519
rs3753519
HSD11B1 ; HSD11B1-AS1
2 0.925 0.200 1 209702170 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs397517892
rs397517892
LMNA
4 0.851 0.240 1 156136419 missense variant C/T snv 9.9E-06 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs4844880
rs4844880
HSD11B1 ; HSD11B1-AS1
4 0.882 0.240 1 209697571 intron variant A/T snv 0.70 0.010 1.000 1 2014 2014
dbSNP: rs4889
rs4889
KISS1
5 0.882 0.160 1 204190659 missense variant G/A;C snv 5.2E-06; 0.29 0.010 1.000 1 2018 2018
dbSNP: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.010 1.000 1 2018 2018
dbSNP: rs562556
rs562556
PCSK9
8 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.010 1.000 1 2018 2018
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2005 2005
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003