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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2013 2013
dbSNP: rs2274911
rs2274911
GPRC6A
6 0.851 0.160 6 116809541 missense variant G/A snv 0.72 0.74 0.010 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
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: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.020 1.000 2 2010 2011
dbSNP: rs6165
rs6165
FSHR
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.010 1.000 1 2011 2011
dbSNP: rs2228611
rs2228611
DNMT1
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs373341
rs373341
UBR2
1 1.000 0.040 6 42691014 intron variant T/C;G snv 0.49; 5.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2015 2015
dbSNP: rs3749897
rs3749897
UBR2
1 1.000 0.040 6 42564364 missense variant C/G;T snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs175080
rs175080
MLH3
9 0.776 0.240 14 75047125 missense variant G/A snv 0.40 0.43 0.010 1.000 1 2010 2010
dbSNP: rs8103849
rs8103849
UHRF1 ; ARRDC5
1 1.000 0.040 19 4909617 missense variant C/G snv 0.38 0.40 0.010 1.000 1 2019 2019
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2013 2013
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2009 2009
dbSNP: rs11703684
rs11703684
PIWIL3
1 1.000 0.040 22 24748945 missense variant C/G;T snv 0.23 0.010 1.000 1 2010 2010
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: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2015 2015
dbSNP: rs16895863
rs16895863
UBR2
1 1.000 0.040 6 42603608 synonymous variant A/T snv 0.20 0.21 0.010 1.000 1 2016 2016
dbSNP: rs2075789
rs2075789
MSH5 ; MSH5-SAPCD1 ; LOC105375020
6 0.882 0.120 6 31740551 missense variant C/T snv 0.13 9.1E-02 0.020 1.000 2 2010 2012
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 2013 2013
dbSNP: rs16999593
rs16999593
DNMT1
14 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs35576928
rs35576928
PRM1 ; RMI2 ; LOC105371082
1 1.000 0.040 16 11281137 missense variant C/A;G snv 8.7E-03; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs61734716
rs61734716
SLC10A6
1 1.000 0.040 4 86828144 missense variant G/A snv 2.3E-03 1.0E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
6 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.010 1.000 1 2006 2006