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 0.935 46 2001 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.943 35 2001 2019
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.030 1.000 3 2013 2017
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.020 1.000 2 2009 2012
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 2015 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2012 2012
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2016 2016
dbSNP: rs1057519753
rs1057519753
JAK1
9 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs12402181
rs12402181
SGIP1 ; MIR3117
3 0.882 0.120 1 66628488 mature miRNA variant G/A snv 0.17 0.24 0.010 1.000 1 2018 2018
dbSNP: rs1801265
rs1801265
DPYD
13 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs200890679
rs200890679
MTHFR
7 0.790 0.240 1 11795191 missense variant C/A;G snv 1.8E-04 2.0E-04 0.010 1.000 1 2008 2008
dbSNP: rs201765376
rs201765376
MTR
12 0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs2295080
rs2295080
MTOR
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2536
rs2536
MTOR
11 0.776 0.240 1 11106656 3 prime UTR variant T/C snv 5.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs35134728
rs35134728
MTHFR ; C1orf167
3 0.882 0.120 1 11787277 3 prime UTR variant -/AGA delins 0.010 1.000 1 2017 2017
dbSNP: rs3737966
rs3737966
MTHFR ; C1orf167
3 0.882 0.120 1 11787702 3 prime UTR variant C/T snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs757891309
rs757891309
MTR
4 0.882 0.120 1 236850389 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs768623239
rs768623239
GSTM1 ; GSTM2
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs869312953
rs869312953
JAK1
5 0.851 0.120 1 64846735 missense variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs869312821
rs869312821
GNB1
7 0.882 0.120 1 1806515 missense variant T/C snv 0.700 0
dbSNP: rs104893636
rs104893636
HOXD3 ; HOXD4
3 0.882 0.120 2 176151875 missense variant A/C;T snv 5.2E-06; 7.9E-04 0.010 1.000 1 2005 2005