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: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.760 0.857 7 2010 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 1.000 4 2003 2007
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.020 1.000 2 2016 2019
dbSNP: rs11255841
rs11255841 		11 0.776 0.080 10 8697617 intergenic variant T/A snv 0.25 0.710 1.000 2 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2006 2006
dbSNP: rs1258159645
rs1258159645
NQO1
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.020 1.000 2 2012 2012
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 2005 2005
dbSNP: rs16892766
rs16892766 		18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.710 1.000 2 2015 2019
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2006 2006
dbSNP: rs10049390
rs10049390
SLCO2A1
10 0.776 0.080 3 133982275 intron variant G/A snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs10318
rs10318
GREM1
3 0.882 0.080 15 32733778 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1078643
rs1078643
TMEM238L ; TMEM220-AS1
10 0.776 0.080 17 10803924 missense variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10795668
rs10795668
LOC105376400
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs10808555
rs10808555
POU5F1B ; CASC8 ; PCAT1
6 0.925 0.080 8 127397266 intron variant G/A snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs10821907
rs10821907 		12 0.776 0.080 10 50888694 upstream gene variant C/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs10849433
rs10849433
LOC105369624
10 0.776 0.080 12 6297738 regulatory region variant T/C snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs10957057
rs10957057 		1 1.000 0.080 8 58487781 downstream gene variant C/T snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs10980628
rs10980628
LPAR1
10 0.776 0.080 9 110909123 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs11022858
rs11022858 		1 1.000 0.080 11 13505086 intergenic variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs11087784
rs11087784 		10 0.776 0.080 20 7760329 intergenic variant A/G snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs11190164
rs11190164 		10 0.776 0.080 10 99591947 intergenic variant A/G snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs11196170
rs11196170
TCF7L2
10 0.776 0.080 10 112962862 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1130864
rs1130864
CRP
27 0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs11610543
rs11610543 		10 0.776 0.080 12 42740389 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs116353863
rs116353863 		10 0.776 0.080 6 31042408 regulatory region variant T/C snv 2.2E-02 0.700 1.000 1 2019 2019