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: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 9 1984 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 1.000 8 2004 2017
dbSNP: rs772092699
rs772092699
EPHB2
3 0.925 0.080 1 22912497 missense variant C/A;G;T snv 4.0E-06 0.070 1.000 7 2012 2020
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.050 0.800 5 2010 2019
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 4 2002 2013
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 3 2002 2013
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 3 2002 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2004 2018
dbSNP: rs60369023
rs60369023
CDA
4 0.851 0.240 1 20604981 missense variant G/A snv 2.6E-04 1.5E-04 0.020 1.000 2 2014 2019
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.020 1.000 2 2013 2015
dbSNP: rs7525160
rs7525160
CR1
1 1.000 0.080 1 207495069 upstream gene variant G/C snv 0.29 0.020 1.000 2 2014 2019
dbSNP: rs1012477
rs1012477
PER3
8 0.827 0.160 1 7798075 intron variant G/C snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1048977
rs1048977
CDA
2 1.000 0.080 1 20618562 synonymous variant C/T snv 0.31 0.34 0.010 1.000 1 2011 2011
dbSNP: rs1049434
rs1049434
SLC16A1
2 0.925 0.120 1 112913924 missense variant A/T snv 0.59 0.66 0.010 1.000 1 2015 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 2011 2011
dbSNP: rs1061624
rs1061624
TNFRSF1B
8 0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs1077424
rs1077424
DAB1
1 1.000 0.080 1 57344632 intron variant G/C snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs11207010
rs11207010
DAB1
1 1.000 0.080 1 57337214 intron variant G/C snv 0.41 0.700 1.000 1 2012 2012
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2011 2011
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 2012 2012
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2012 2012
dbSNP: rs12061812
rs12061812
DAB1
1 1.000 0.080 1 57336931 intron variant C/A snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs12087888
rs12087888
DAB1
1 1.000 0.080 1 57337087 intron variant T/C snv 0.41 0.700 1.000 1 2012 2012
dbSNP: rs1225118391
rs1225118391
AGT
2 0.925 0.200 1 230710637 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1252688154
rs1252688154
MUC1
1 1.000 0.080 1 155187520 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014