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: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.710 1.000 3 2011 2019
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.030 1.000 3 2011 2014
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs1078305
rs1078305
GSN
1 1.000 0.040 9 121289122 intron variant A/G snv 0.70 0.010 1.000 1 2016 2016
dbSNP: rs10818524
rs10818524
GSN
1 1.000 0.040 9 121267901 intron variant T/C snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs11707807
rs11707807
LPP
1 1.000 0.040 3 188370473 intron variant A/G snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs117984432
rs117984432
ANKRD11
1 1.000 0.040 16 89388583 intron variant T/C snv 2.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs12108497
rs12108497
CASP3 ; PRIMPOL
6 0.851 0.080 4 184650403 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12334811
rs12334811
PRKDC
4 0.851 0.080 8 47920417 intron variant G/A snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs12587742
rs12587742
DCAF4
5 0.851 0.080 14 72926683 intron variant G/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs12916300
rs12916300
HERC2
13 0.742 0.080 15 28165345 intron variant C/T snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs12934561
rs12934561
IL32
3 0.882 0.080 16 3068864 intron variant T/C snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs13301660
rs13301660
SEC16A
1 1.000 0.040 9 136446350 intron variant C/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs1333040
rs1333040
CDKN2B-AS1
15 0.732 0.280 9 22083405 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1340420
rs1340420
TNKS2
3 0.925 0.080 10 91857549 intron variant A/G snv 0.71 0.70 0.010 1.000 1 2015 2015
dbSNP: rs1460816
rs1460816
BRCA2
1 1.000 0.040 13 32354271 intron variant G/A snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs149906873
rs149906873
OCA2
1 1.000 0.040 15 28088564 intron variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1607237
rs1607237
PIK3CA
1 1.000 0.040 3 179232509 intron variant C/T snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs1670661
rs1670661
NELL1
2 1.000 0.040 11 21209124 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1770474
rs1770474
TNKS2
3 0.925 0.080 10 91833770 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs17761864
rs17761864
SMG6
2 1.000 0.040 17 2268343 intron variant C/A snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs181696
rs181696
PLCH1
3 0.925 0.080 3 155548315 intron variant T/C snv 0.55 0.010 1.000 1 2013 2013
dbSNP: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2014 2014
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