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: rs17631303
rs17631303
PLEKHM1
2 1.000 0.120 17 45439036 intron variant A/G snv 0.12 0.800 1.000 1 2013 2013
dbSNP: rs17693104
rs17693104
SH2D4B
1 1.000 0.120 10 80608465 intron variant T/C snv 0.61 0.700 1.000 1 2017 2017
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2015 2015
dbSNP: rs183211
rs183211
NSF ; LRRC37A2
4 0.882 0.160 17 46710944 intron variant G/A snv 0.28 0.30 0.800 1.000 1 2013 2013
dbSNP: rs185229225
rs185229225
BOD1L1
4 0.851 0.120 4 13607505 intron variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs185652178
rs185652178
JAKMIP2-AS1
1 1.000 0.120 5 147579243 intron variant C/T snv 2.2E-03 0.700 1.000 1 2019 2019
dbSNP: rs186724
rs186724
AHCYL1
3 0.882 0.120 1 110018293 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1879586
rs1879586
PLEKHM1
2 0.925 0.120 17 45489971 intron variant C/G snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs1899663
rs1899663
HOTAIR
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs1934363
rs1934363
LINC02652
1 1.000 0.120 10 28484549 intron variant G/C snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs1989839
rs1989839
RASSF1 ; ZMYND10
8 0.790 0.160 3 50341515 intron variant A/G snv 0.22 0.20 0.010 1.000 1 2018 2018
dbSNP: rs199443
rs199443
NSF ; LRRC37A2
1 1.000 0.120 17 46742199 intron variant C/T snv 0.15 0.700 1.000 1 2013 2013
dbSNP: rs199534
rs199534
NSF ; LRRC37A2
2 1.000 0.120 17 46746847 intron variant T/G snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs201023017
rs201023017
SLC9A9
1 1.000 0.120 3 143384827 intron variant T/- del 0.700 1.000 1 2016 2016
dbSNP: rs2077606
rs2077606
PLEKHM1
2 1.000 0.120 17 45451927 intron variant G/A snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs2107425
rs2107425
MRPL23 ; H19
16 0.732 0.280 11 1999845 intron variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs2165109
rs2165109
ACOXL ; MIR4435-2HG
2 0.925 0.120 2 111061081 intron variant A/C snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs2191249
rs2191249
BRIP1
3 0.882 0.120 17 61758503 intron variant T/G snv 0.79 0.010 1.000 1 2007 2007
dbSNP: rs2287497
rs2287497
TP53 ; WRAP53
3 0.882 0.120 17 7689462 intron variant G/A snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs2300206
rs2300206
RALY
17 0.708 0.280 20 34002002 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs230521
rs230521
NFKB1
4 0.851 0.160 4 102542171 intron variant C/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs2424913
rs2424913
DNMT3B
18 0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53 0.010 1.000 1 2013 2013
dbSNP: rs2494938
rs2494938
LRFN2
11 0.752 0.240 6 40568389 intron variant G/A snv 0.51 0.010 < 0.001 1 2014 2014
dbSNP: rs266851
rs266851
KLK15 ; LOC105372441
3 0.882 0.120 19 50833083 intron variant C/T snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs2699887
rs2699887
PIK3CA ; LOC101928739
11 0.763 0.280 3 179148620 intron variant C/T snv 0.18 0.010 1.000 1 2019 2019