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 0.030 1.000 3 2006 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2003 2018
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2005 2011
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs10495098
rs10495098 		1 1.000 1 218342968 upstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2012 2012
dbSNP: rs11017328
rs11017328 		2 0.925 0.080 10 130548836 regulatory region variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs11627387
rs11627387
MTHFD1 ; ZBTB25
1 1.000 14 64457259 intron variant G/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs12109442
rs12109442 		1 1.000 5 95827931 downstream gene variant T/A snv 9.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs121908601
rs121908601
ZFPM2
4 0.851 0.080 8 105419192 missense variant A/C;G snv 4.0E-06; 2.7E-03 0.010 1.000 1 2011 2011
dbSNP: rs1266613767
rs1266613767
MEF2C
1 1.000 5 88751929 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1346131223
rs1346131223
VEGFA
1 1.000 6 43777657 missense variant A/G snv 7.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs1359880314
rs1359880314
SLC19A1
12 0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs1396258746
rs1396258746
ADD1
2 0.925 0.120 4 2898474 missense variant G/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs1434993315
rs1434993315
DHX8 ; ETV4
1 1.000 17 43528566 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1465444723
rs1465444723
TCN2
5 0.827 0.240 22 30610886 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs149181425
rs149181425
PITX2
1 1.000 4 110618313 missense variant C/A;G;T snv 2.0E-05; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs17085159
rs17085159 		1 1.000 5 95831293 downstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2014 2014
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 2012 2012
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2018 2018
dbSNP: rs187043152
rs187043152
ZFPM2 ; ZFPM2-AS1
4 0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs191930922
rs191930922
TBX2
1 1.000 17 61408214 missense variant G/A snv 8.2E-04 3.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs1959122
rs1959122 		2 0.925 0.080 14 81871321 intron variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs201325654
rs201325654
TBX3
1 1.000 12 114674250 missense variant G/A snv 1.4E-03 3.8E-04 0.010 1.000 1 2018 2018