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 0.914 58 1998 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2006 2018
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.060 1.000 6 1995 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.040 1.000 4 2005 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 0.030 1.000 3 2009 2014
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.030 1.000 3 2011 2015
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 0.030 1.000 3 2009 2014
dbSNP: rs3783613
rs3783613
VCAM1
6 0.851 0.200 1 100731231 missense variant G/A;C snv 4.0E-06; 9.9E-03 0.020 0.500 2 2002 2015
dbSNP: rs880315
rs880315
CASZ1
9 0.925 0.120 1 10736809 intron variant T/C snv 0.32 0.710 1.000 2 2017 2018
dbSNP: rs1052053
rs1052053
PMF1 ; PMF1-BGLAP
3 1.000 0.080 1 156232382 missense variant A/C;G snv 1.0E-03; 0.38 0.700 1.000 1 2018 2018
dbSNP: rs11240065
rs11240065
LINC00624
1 1 147468451 intron variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1130864
rs1130864
CRP
27 0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs12037987
rs12037987
WNT2B
2 1 112500200 intron variant T/C snv 8.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs12122341
rs12122341 		2 1.000 0.080 1 115113069 regulatory region variant C/G snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs12130333
rs12130333 		4 1.000 0.080 1 62726106 regulatory region variant C/T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs1255283120
rs1255283120
MTHFR
7 0.807 0.160 1 11792345 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1324214
rs1324214
F3
3 0.925 0.120 1 94531732 intron variant G/A snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs147270785
rs147270785
MASP2
2 1.000 0.080 1 11046616 missense variant G/A snv 6.5E-04 6.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs148158062
rs148158062
LINC00624
1 1 147468451 intron variant -/GTTCCTTC delins 0.700 1.000 1 2011 2011
dbSNP: rs161802
rs161802
PARK7
1 1 7982766 intron variant G/T snv 0.25 0.800 1.000 1 2014 2014
dbSNP: rs161810
rs161810
TNFRSF9
4 0.925 0.120 1 7940737 intron variant T/C snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs17114036
rs17114036
PLPP3
5 0.851 0.120 1 56497149 intron variant A/G snv 0.11 0.700 1.000 1 2014 2014
dbSNP: rs17568
rs17568
TNFRSF4
12 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2018 2018
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.010 1.000 1 2010 2010