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: rs2245214
rs2245214
ATG5
6 0.827 0.240 6 106214866 intron variant C/G snv 0.42 0.010 1.000 1 2014 2014
dbSNP: rs2289261
rs2289261
SMAD3
1 1.000 0.080 15 67165147 intron variant G/C;T snv 0.61 0.700 1.000 1 2017 2017
dbSNP: rs2466076
rs2466076
NRG1
1 1.000 0.080 8 32575278 intron variant G/T snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs3917225
rs3917225
IL1R1
6 0.807 0.160 2 102152842 intron variant A/G snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs4658973
rs4658973
WDR3 ; SPAG17
3 0.882 0.080 1 117956431 intron variant T/G snv 0.34 0.010 1.000 1 2008 2008
dbSNP: rs56062135
rs56062135
SMAD3
8 0.790 0.200 15 67163292 intron variant C/T snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs6759952
rs6759952
DIRC3
2 1.000 0.080 2 217406996 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs7024345
rs7024345
PTCSC2
2 0.925 0.080 9 97832956 intron variant A/G snv 0.82 0.700 1.000 1 2009 2009
dbSNP: rs7028661
rs7028661
PTCSC2
4 0.882 0.080 9 97776188 intron variant A/G snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs7030280
rs7030280
PTCSC2
2 1.000 0.080 9 97772985 intron variant C/T snv 0.72 0.700 1.000 1 2010 2010
dbSNP: rs73227498
rs73227498
EPB41L4A
1 1.000 0.080 5 112150207 intron variant A/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs7848973
rs7848973
PTCSC2
2 0.925 0.080 9 97826557 intron variant A/G snv 0.67 0.700 1.000 1 2013 2013
dbSNP: rs78929565
rs78929565
CLOCK
3 0.882 0.080 4 55539035 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.010 1.000 1 2009 2009
dbSNP: rs10122541
rs10122541 		1 1.000 0.080 9 97865986 intergenic variant G/A snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs2145418
rs2145418 		3 0.882 0.080 1 118422631 intergenic variant C/A snv 0.78 0.010 1.000 1 2008 2008
dbSNP: rs7866436
rs7866436 		2 0.925 0.080 9 97887814 intergenic variant G/A snv 0.70 0.700 1.000 1 2013 2013
dbSNP: rs7902587
rs7902587 		2 0.925 0.080 10 103934543 intergenic variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs116909374
rs116909374 		11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.840 0.800 5 2012 2017
dbSNP: rs925487
rs925487 		2 0.925 0.080 9 97874116 regulatory region variant C/A;T snv 0.700 1.000 2 2009 2013
dbSNP: rs6013897
rs6013897 		7 0.790 0.200 20 54125940 regulatory region variant T/A snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs7037324
rs7037324
LOC112268051
3 0.882 0.080 9 97896036 regulatory region variant A/G snv 0.71 0.710 1.000 1 2015 2015
dbSNP: rs1064795638
rs1064795638
BAP1
7 0.851 0.080 3 52403251 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs768891111
rs768891111
KLC1 ; XRCC3
4 0.851 0.080 14 103699474 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.980 98 2004 2019