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: rs12676
rs12676
CHDH
5 0.827 0.240 3 53823776 missense variant A/C;T snv 0.77 0.010 1.000 1 2017 2017
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: 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: 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: rs2424913
rs2424913
DNMT3B
18 0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53 0.020 1.000 2 2015 2018
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: 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: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.100 0.889 18 2000 2017
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 1.000 2 2012 2014
dbSNP: rs1532268
rs1532268
MTRR
12 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2013 2013
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: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2005 2005
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: 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: 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: 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: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.100 0.818 11 2003 2014
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: 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: 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: 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: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2000 2000
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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
dbSNP: rs73118372
rs73118372
CRELD1
4 0.851 0.160 3 9943989 missense variant T/C;G snv 2.6E-02; 6.8E-05 0.010 1.000 1 2012 2012