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: rs11979158
rs11979158
EGFR
5 0.882 0.040 7 55091656 intron variant A/G;T snv 0.20 0.850 1.000 6 2011 2018
dbSNP: rs2252586
rs2252586 		5 0.882 0.040 7 54911231 intergenic variant C/T snv 0.27 0.860 0.833 6 2011 2017
dbSNP: rs6470745
rs6470745
CCDC26
3 0.882 0.040 8 129629675 intron variant A/G snv 0.18 0.720 1.000 4 2009 2019
dbSNP: rs12803321
rs12803321
PHLDB1
2 1.000 0.040 11 118609400 intron variant G/C;T snv 0.700 1.000 3 2015 2018
dbSNP: rs1346786
rs1346786
EFEMP1
1 1.000 0.040 2 55881198 intron variant C/T snv 0.36 0.030 1.000 3 2015 2017
dbSNP: rs1346787
rs1346787
EFEMP1 ; LOC112268416
3 0.882 0.040 2 55865477 downstream gene variant C/A;G;T snv 0.030 1.000 3 2015 2017
dbSNP: rs75061358
rs75061358 		4 0.882 0.040 7 54848587 intergenic variant T/C;G snv 0.700 1.000 3 2015 2018
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: rs10464870
rs10464870
CCDC26
3 0.882 0.040 8 129465577 intron variant C/T snv 0.80 0.700 1.000 2 2009 2011
dbSNP: rs11706832
rs11706832
LRIG1
2 1.000 0.040 3 66452557 intron variant A/C;G snv 0.710 1.000 2 2017 2018
dbSNP: rs12752552
rs12752552
RAVER2
4 0.882 0.040 1 64763616 intron variant T/C snv 0.13 0.700 1.000 2 2017 2018
dbSNP: rs16904140
rs16904140
CCDC26
1 1.000 0.040 8 129653397 intron variant G/A snv 0.19 0.700 1.000 2 2009 2011
dbSNP: rs1801591
rs1801591
ETFA
4 0.882 0.040 15 76286421 missense variant G/A snv 7.4E-02 6.4E-02 0.710 1.000 2 2015 2017
dbSNP: rs1920116
rs1920116
LRRC31
5 0.882 0.040 3 169862183 intron variant G/A snv 0.25 0.820 1.000 2 2014 2015
dbSNP: rs2065134
rs2065134
SLC7A7
1 1.000 0.040 14 22788980 intron variant T/C;G snv 0.020 0.500 2 2013 2017
dbSNP: rs494560
rs494560
PHLDB1
1 1.000 0.040 11 118650844 non coding transcript exon variant A/G snv 0.57 0.710 1.000 2 2011 2012
dbSNP: rs648044
rs648044
ZBTB16 ; LOC101928875
4 0.882 0.040 11 114160077 non coding transcript exon variant A/G;T snv 0.700 1.000 2 2015 2017
dbSNP: rs1005230
rs1005230
VEGFA
5 0.827 0.040 6 43768759 upstream gene variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs10131032
rs10131032
AKAP6
2 1.000 0.040 14 32780875 intron variant G/A snv 9.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs1048771
rs1048771
RAD54L ; LRRC41
1 1.000 0.040 1 46278228 synonymous variant C/A;T snv 4.0E-06; 0.15 0.010 1.000 1 2016 2016
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: rs1052555
rs1052555
ERCC2
3 0.882 0.040 19 45352266 synonymous variant G/A snv 0.28 0.26 0.010 < 0.001 1 2014 2014
dbSNP: rs1058319
rs1058319
SLC2A4RG
2 1.000 0.040 20 63743036 3 prime UTR variant C/A;T snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs10764901
rs10764901
MGMT ; LOC105378560
1 1.000 0.040 10 129716598 intron variant A/G snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs10842893
rs10842893
STK38L
1 1.000 0.040 12 27269953 intron variant C/T snv 7.1E-02 0.710 1.000 1 2019 2019