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: rs11077
rs11077
POLR1C ; XPO5
14 0.732 0.320 6 43523209 3 prime UTR variant T/G snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.020 1.000 2 2014 2018
dbSNP: rs11187870
rs11187870
PLCE1 ; NOC3L
1 1.000 0.080 10 94328109 3 prime UTR variant G/C snv 6.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs11203366
rs11203366
PADI4
2 0.925 0.200 1 17331039 missense variant G/A snv 0.56 0.55 0.010 1.000 1 2017 2017
dbSNP: rs1126667
rs1126667
ALOX12 ; ALOX12-AS1
8 0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 0.010 1.000 1 2007 2007
dbSNP: rs1129186
rs1129186
PEX6
1 1.000 0.080 6 42964464 synonymous variant C/T snv 0.48 0.57 0.010 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2003 2017
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 2004 2004
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2017 2017
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.020 0.500 2 2010 2013
dbSNP: rs114673809
rs114673809
MTHFR ; C1orf167
3 0.882 0.080 1 11787703 3 prime UTR variant G/A snv 5.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs11473
rs11473
BSG
4 0.882 0.080 19 582982 3 prime UTR variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11548103
rs11548103
S100A14
4 0.882 0.080 1 153615864 splice region variant C/T snv 0.40 0.39 0.010 1.000 1 2017 2017
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2011 2011
dbSNP: rs115797771
rs115797771
KLF5
6 0.807 0.080 13 73064505 intron variant A/C snv 5.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs11599672
rs11599672
PLCE1 ; LOC105378438
3 0.925 0.080 10 93993019 regulatory region variant T/G snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.060 1.000 6 2010 2019
dbSNP: rs11677
rs11677
PLA2G2A
1 1.000 0.080 1 19975471 3 prime UTR variant G/A snv 9.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs1170595036
rs1170595036
SDHC
1 1.000 0.080 1 161323623 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs11752942
rs11752942
LINC00951 ; TDRG1
3 0.882 0.080 6 40354019 intron variant A/G snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs1200003171
rs1200003171
AKT1
4 0.882 0.120 14 104775122 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1200055659
rs1200055659
S100A14 ; S100A16
4 0.851 0.080 1 153614902 missense variant G/A snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1206093523
rs1206093523
TGFBR2 ; LOC105377015
1 1.000 0.080 3 30606915 missense variant C/T snv 9.2E-06 0.010 1.000 1 2008 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 13 2003 2019