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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.070 0.857 7 2001 2019
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2014 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2014 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2014 2014
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2019 2019
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2019 2019
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2020 2020
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2016 2016
dbSNP: rs1799987
rs1799987
CCR5 ; CCR5AS
10 0.763 0.200 3 46370444 intron variant A/G snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs1799988
rs1799988
CCR5 ; CCR5AS
1 1.000 0.040 3 46370768 intron variant C/T snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs1800023
rs1800023
CCR5 ; CCR5AS
2 1.000 0.040 3 46370817 intron variant A/G snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1800024
rs1800024
CCR5 ; CCR5AS
2 0.925 0.080 3 46371068 intron variant C/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2013 2013
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2000 2000
dbSNP: rs2227010
rs2227010
CCR5 ; CCR5AS
1 1.000 0.040 3 46370051 intron variant G/A snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs246079
rs246079
UNG
9 0.790 0.120 12 109109255 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2007 2007
dbSNP: rs2734648
rs2734648
CCR5 ; CCR5AS
1 1.000 0.040 3 46370349 intron variant G/T snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs3219218
rs3219218
UNG
4 0.851 0.120 12 109100430 intron variant A/G snv 1.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs333
rs333
CCR5 ; CCR5AS
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014