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: rs1200055659
rs1200055659
S100A14 ; S100A16
4 0.851 0.080 1 153614902 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs12564469
rs12564469
CHD5
1 1.000 0.080 1 6150910 intron variant G/A snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
7 0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63 0.010 1.000 1 2008 2008
dbSNP: rs1329044438
rs1329044438
DIO1
2 0.925 0.120 1 53906244 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs157224
rs157224
EPB41
1 1.000 0.080 1 28886822 upstream gene variant C/A snv 9.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs17375018
rs17375018
IL23R ; C1orf141
7 0.790 0.360 1 67189464 intron variant G/A snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1800247
rs1800247
BGLAP ; PMF1-BGLAP
4 0.882 0.200 1 156242034 intron variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1801265
rs1801265
DPYD
13 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs1801955
rs1801955
PHGDH
1 1.000 0.080 1 119743954 missense variant T/A snv 0.010 1.000 1 2005 2005
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: rs2073655
rs2073655
USF1
1 1.000 0.080 1 161042800 intron variant G/A snv 0.25 0.22 0.010 1.000 1 2015 2015
dbSNP: rs2073658
rs2073658
USF1
4 0.882 0.200 1 161040972 intron variant C/T snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs2274567
rs2274567
CR1
10 0.776 0.400 1 207580276 missense variant A/G snv 0.25 0.21 0.010 1.000 1 2019 2019
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: rs2516839
rs2516839
USF1
14 0.732 0.320 1 161043331 5 prime UTR variant C/T snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs3218170
rs3218170
E2F2 ; LOC101928163
1 1.000 0.080 1 23521037 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs3219487
rs3219487
MUTYH
1 1.000 0.080 1 45332883 non coding transcript exon variant T/C snv 0.93 0.93 0.010 1.000 1 2018 2018
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.010 1.000 1 2006 2006
dbSNP: rs36053993
rs36053993
MUTYH
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2006 2006
dbSNP: rs3748578
rs3748578
KIF1B ; LOC105376725
1 1.000 0.080 1 10360860 intron variant G/A snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs3753584
rs3753584
CLCN6 ; MTHFR
10 0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14 0.010 1.000 1 2019 2019