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: rs12728900
rs12728900
LIN28A
1 1.000 0.080 1 26420316 intron variant G/A snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs1414493
rs1414493 		1 1.000 0.080 1 241523216 upstream gene variant A/G snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs1537514
rs1537514
MTHFR ; C1orf167
4 0.882 0.120 1 11788011 missense variant G/C snv 0.10 0.10 0.010 1.000 1 2014 2014
dbSNP: rs17425189
rs17425189
DAB1
1 1.000 0.080 1 57397277 intron variant T/C snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1801173
rs1801173
TP73
5 0.851 0.120 1 3682346 5 prime UTR variant C/T snv 0.20 0.18 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 0.010 < 0.001 1 2011 2011
dbSNP: rs1805094
rs1805094
LEPR
16 0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2273953
rs2273953
TP73
5 0.851 0.120 1 3682336 5 prime UTR variant G/A;T snv 0.20; 3.3E-04 0.010 1.000 1 2011 2011
dbSNP: rs228644
rs228644
PER3
2 1.000 0.080 1 7806023 intron variant G/A snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs228727
rs228727
PER3
1 1.000 0.080 1 7787776 non coding transcript exon variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs228729
rs228729
PER3
5 0.827 0.120 1 7785635 intron variant T/C snv 0.69 0.69 0.010 1.000 1 2014 2014
dbSNP: rs2564978
rs2564978
CD55
6 0.827 0.080 1 207321071 upstream gene variant T/C snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs267598140
rs267598140
DDR2
3 0.925 0.080 1 162778600 missense variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs267650
rs267650
DAB1
1 1.000 0.080 1 57330108 intron variant T/C snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs3021094
rs3021094
IL10 ; IL19
8 0.827 0.360 1 206771607 intron variant T/G snv 8.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs3176447
rs3176447
CDKN2C
1 1.000 0.080 1 50968015 5 prime UTR variant T/A snv 7.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs3219489
rs3219489
MUTYH
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2015 2015
dbSNP: rs344924
rs344924 		2 1.000 0.080 1 67639770 intergenic variant A/G snv 0.17 0.800 1.000 1 2014 2014
dbSNP: rs369410616
rs369410616
MUTYH
10 0.752 0.280 1 45329400 missense variant C/T snv 2.0E-05 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs375294990
rs375294990
MUC1
1 1.000 0.080 1 155192150 missense variant G/C snv 8.0E-06 5.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs3768160
rs3768160
MTR
1 1.000 0.080 1 236899132 3 prime UTR variant T/C snv 6.4E-02 0.010 1.000 1 2010 2010
dbSNP: rs3790622
rs3790622
IL10 ; IL19
3 0.882 0.320 1 206771818 intron variant G/A snv 1.5E-03 0.010 1.000 1 2019 2019
dbSNP: rs3909556
rs3909556
DAB1
1 1.000 0.080 1 57381313 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs4645981
rs4645981
CASP9 ; DNAJC16
11 0.790 0.160 1 15524988 intron variant G/A;C snv 0.010 1.000 1 2009 2009