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: 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: 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: 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: rs199683090
rs199683090
SLC19A1
2 0.925 0.120 21 45531476 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.050 0.800 5 2005 2013
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.010 1.000 1 2011 2011
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 2009 2009
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: 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: rs771748290
rs771748290
CBS
3 0.882 0.160 21 43072114 missense variant C/A;T snv 8.1E-06; 8.1E-06 0.050 1.000 5 2005 2017
dbSNP: rs779011920
rs779011920
CBS
3 0.882 0.160 21 43066299 missense variant C/T snv 8.0E-06 0.050 1.000 5 2005 2017
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.040 1.000 4 2005 2013
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.040 1.000 4 2005 2013
dbSNP: rs562625029
rs562625029
CBS
5 0.827 0.280 21 43058192 stop gained G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs2187247
rs2187247
ERVH48-1
1 1.000 0.080 21 42919268 non coding transcript exon variant T/G snv 0.59 0.010 1.000 1 2008 2008
dbSNP: rs11254
rs11254
ETS2
2 0.925 0.120 21 38824464 3 prime UTR variant C/T snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs711
rs711
ETS2
4 0.851 0.200 21 38823135 3 prime UTR variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs2070531
rs2070531
ETS2
2 0.925 0.120 21 38822292 intron variant C/T snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs461155
rs461155
ETS2
3 0.925 0.120 21 38819714 synonymous variant A/G;T snv 0.72; 4.0E-06 0.010 1.000 1 2011 2011
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: 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: 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: rs9024
rs9024
CBR1 ; SETD4 ; LOC100133286
3 0.882 0.160 21 36073015 3 prime UTR variant G/A snv 9.7E-02 0.010 1.000 1 2014 2014
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