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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs121912594
rs121912594
CPS1
7 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2007 2007
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: 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
dbSNP: rs749628781
rs749628781
CRELD1
3 0.882 0.160 3 9934538 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs755981922
rs755981922
CRELD1
4 0.851 0.160 3 9943440 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs9878047
rs9878047
CRELD1
4 0.851 0.160 3 9943773 intron variant T/C snv 0.38 0.010 1.000 1 2012 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: rs1569686
rs1569686
DNMT3B
15 0.752 0.400 20 32779273 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs142569954
rs142569954
EDNRB
3 0.882 0.160 13 77918396 missense variant C/G;T snv 4.1E-06; 2.1E-05 0.010 1.000 1 2003 2003
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: rs1323833193
rs1323833193
EGF
4 0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018