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: rs1448674651
rs1448674651
TYMS ; ENOSF1
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1331959399
rs1331959399
TWIST1
2 0.925 0.120 7 19117256 synonymous variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs373667881
rs373667881
TRIB1
5 0.827 0.160 8 125431222 missense variant G/A;T snv 1.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs778423815
rs778423815
TP73
2 0.925 0.120 1 3707661 missense variant C/G snv 4.4E-05 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2013 2017
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs587781858
rs587781858
TP53
12 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2013 2013
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.020 0.500 2 2008 2012
dbSNP: rs1465444723
rs1465444723
TCN2
5 0.827 0.240 22 30610886 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.070 0.857 7 2008 2013
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.050 0.800 5 2005 2013
dbSNP: rs1359880314
rs1359880314
SLC19A1
12 0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 0.030 0.667 3 2006 2013
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.020 1.000 2 2005 2007
dbSNP: rs1215380342
rs1215380342
SLC19A1
2 0.925 0.120 21 45531505 missense variant G/A snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1445106099
rs1445106099
SLC19A1
2 0.925 0.120 21 45531596 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs199683090
rs199683090
SLC19A1
2 0.925 0.120 21 45531476 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs2073416
rs2073416
SIM2
2 0.925 0.120 21 36744739 synonymous variant G/A;T snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs2073601
rs2073601
SIM2
2 0.925 0.120 21 36745007 missense variant C/A;T snv 0.28; 2.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs1979277
rs1979277
SHMT1
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.010 1.000 1 2012 2012
dbSNP: rs112735431
rs112735431
RNF213 ; RNF213-AS1
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2435357
rs2435357
RET
8 0.790 0.240 10 43086608 intron variant T/C snv 0.79 0.010 1.000 1 2012 2012
dbSNP: rs2506004
rs2506004
RET
3 0.882 0.160 10 43086825 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12325817
rs12325817
PEMT
7 0.807 0.320 17 17583205 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs10763976
rs10763976
PARD3
2 0.925 0.120 10 34275364 intron variant G/A snv 0.42 0.010 1.000 1 2010 2010