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: rs10129954
rs10129954
DPF3
2 1.000 0.040 14 72683993 intron variant C/T snv 0.49 0.020 1.000 2 2018 2018
dbSNP: rs1042389
rs1042389
CYP2B6
1 19 41018248 3 prime UTR variant T/C snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2012 2018
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs10459953
rs10459953
NOS2
3 0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs1050482
rs1050482
SLC20A1
1 2 112663757 3 prime UTR variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2013 2018
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs1059060
rs1059060
PMS2
3 0.925 0.040 7 5977709 missense variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1061581
rs1061581
HSPA1A ; HSPA1L
6 0.827 0.200 6 31816809 synonymous variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs10841496
rs10841496
PDE3A
1 12 20368720 intron variant C/A snv 0.43 0.800 1.000 1 2010 2010
dbSNP: rs10842262
rs10842262
SOX5
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.020 1.000 2 2014 2019
dbSNP: rs10966811
rs10966811 		2 1.000 0.040 9 25233486 intergenic variant G/A snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs11204546
rs11204546
OR2W3
3 0.925 0.040 1 247896410 missense variant T/C;G snv 0.58; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2018 2018
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2014 2014
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs11467497
rs11467497
DEFB126
1 20 145515 frameshift variant CAAA/- delins 0.15 0.18 0.010 1.000 1 2015 2015
dbSNP: rs11531577
rs11531577
STAG3
2 1.000 0.040 7 100180604 missense variant G/T snv 0.18 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1161498711
rs1161498711
STAG3 ; CASTOR3
1 7 100198492 missense variant T/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs116298211
rs116298211
AK7
4 0.882 0.160 14 96486941 missense variant T/C;G snv 1.5E-03 1.4E-03 0.010 1.000 1 2018 2018
dbSNP: rs11710967
rs11710967
DAZL
1 3 16598568 missense variant T/A;C snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs12097821
rs12097821 		4 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.926 27 2003 2019