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: rs11166389
rs11166389
SLC35A3 ; RNU6-1318P
2 1.000 0.040 1 100000723 non coding transcript exon variant G/A snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs12021720
rs12021720
DBT
3 0.925 0.160 1 100206504 missense variant T/A;C snv 0.92 0.700 1.000 1 2009 2009
dbSNP: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs17024869
rs17024869
NPAS2
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs895520
rs895520
NPAS2
23 0.689 0.320 2 100961475 intron variant G/A snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
NPAS2
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs782414948
rs782414948
CUX1
1 1.000 0.040 7 102227624 missense variant G/A snv 3.2E-05 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs749124997
rs749124997
IGF1 ; HELLPAR ; LINC02456
1 1.000 0.040 12 102402539 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 1.000 2 2017 2017
dbSNP: rs3212112
rs3212112
KLC1 ; XRCC3
1 1.000 0.040 14 103699345 intron variant A/C snv 7.1E-03 2.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.080 0.875 8 2012 2017
dbSNP: rs11598018
rs11598018
STN1
2 1.000 0.040 10 103901557 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs71305152
rs71305152
ZFPM2
5 0.882 0.040 8 105437494 intron variant -/TTTTCT delins 0.43 0.010 1.000 1 2015 2015
dbSNP: rs3851634
rs3851634
POLR3B
4 0.882 0.040 12 106419124 intron variant T/C snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs10494090
rs10494090
SLC25A24
2 1.000 0.040 1 108150714 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs10131
rs10131
LIG4
3 1.000 0.040 13 108207498 3 prime UTR variant C/T snv 0.12 0.020 1.000 2 2015 2016
dbSNP: rs1805388
rs1805388
LIG4
11 0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16 0.020 0.500 2 2013 2015
dbSNP: rs3093739
rs3093739
LIG4
1 1.000 0.040 13 108215053 intron variant A/G snv 8.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs3092993
rs3092993
ATM ; C11orf65
5 0.827 0.040 11 108364388 intron variant C/A snv 0.11 0.010 1.000 1 2007 2007
dbSNP: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs4845964
rs4845964
LOC105376735
2 1.000 0.040 1 10920487 regulatory region variant G/A snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.030 1.000 3 2012 2014
dbSNP: rs776728511
rs776728511
EGF
2 0.925 0.040 4 109945192 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012