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: rs199683090
rs199683090
SLC19A1
2 0.925 0.120 21 45531476 missense variant C/T snv 0.010 1.000 1 2012 2012
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: rs2071421
rs2071421
ARSA
7 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 0.010 1.000 1 2003 2003
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: rs2305764
rs2305764
MYO9B
10 0.776 0.360 19 17203024 non coding transcript exon variant G/A snv 0.52 0.50 0.010 1.000 1 2010 2010
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: rs28933068
rs28933068
FGFR3
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs28936670
rs28936670
NKX2-5
17 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs363430
rs363430
BACH1 ; GRIK1 ; GRIK1-AS2
3 0.882 0.160 21 29598863 synonymous variant G/A snv 0.18 0.17 0.010 1.000 1 2009 2009
dbSNP: rs363504
rs363504
BACH1 ; GRIK1
3 0.882 0.160 21 29553607 stop gained A/G;T snv 6.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs363538
rs363538
GRIK1
3 0.882 0.160 21 29689750 synonymous variant T/A;G snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2017 2017
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: rs3774207
rs3774207
CRELD1
4 0.851 0.160 3 9943972 synonymous variant C/T snv 0.27 0.38 0.010 1.000 1 2012 2012
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: 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: rs5349
rs5349
EDNRB ; EDNRB-AS1
3 0.882 0.160 13 77903530 synonymous variant G/A snv 5.5E-03 1.1E-02 0.010 1.000 1 2003 2003
dbSNP: rs562625029
rs562625029
CBS
5 0.827 0.280 21 43058192 stop gained G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 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: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs6962966
rs6962966
MAGI2
3 0.925 0.120 7 78174806 intron variant A/G snv 0.50 0.010 1.000 1 2010 2010
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