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: rs121913483
rs121913483
FGFR3
13 0.734 0.250 4 1801841 missense variant C/A,G,T snp 4.2E-06; 1.3E-05 3.2E-05 0.810 1.000 5 1996 2015
dbSNP: rs78311289
rs78311289
FGFR3
27 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.800 4 2001 2008
dbSNP: rs121913530
rs121913530
KRAS
39 0.615 0.321 12 25245351 missense variant C/A,G,T snp 0.800 1 1984 1984
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
42 0.615 0.464 11 534288 missense variant C/A,G,T snp 0.700 0
dbSNP: rs118203419
rs118203419
TSC1
1 1.000 0.107 9 132921818 splice donor variant C/T snp 0.700 0
dbSNP: rs118203423
rs118203423
TSC1
3 0.878 0.179 9 132921437 splice acceptor variant C/G,T snp 0.700 0
dbSNP: rs118203542
rs118203542
TSC1
5 0.821 0.250 9 132906053 stop gained G/A snp 0.700 0
dbSNP: rs118203549
rs118203549
TSC1
3 0.878 0.179 9 132905999 stop gained G/A snp 0.700 0
dbSNP: rs118203631
rs118203631
TSC1
3 0.878 0.179 9 132903785 stop gained G/A snp 0.700 0
dbSNP: rs121913479
rs121913479
FGFR3
10 0.744 0.286 4 1804362 missense variant G/A,T snp 4.0E-06 3.2E-05 0.700 0
dbSNP: rs121913482
rs121913482
FGFR3
30 0.685 0.393 4 1801837 missense variant C/T snp 0.700 0
dbSNP: rs28897728
rs28897728
BRCA2
1 1.000 0.107 13 32338940 missense variant G/A snp 3.9E-04 4.8E-04 0.700 0
dbSNP: rs2228000
rs2228000
XPC
23 0.657 0.357 3 14158387 missense variant G/A snp 0.24 0.22 0.070 1.000 7 2007 2014
dbSNP: rs2228001
rs2228001
XPC
29 0.634 0.357 3 14145949 missense variant G/T snp 0.63 0.66 0.070 1.000 7 2005 2014
dbSNP: rs25487
rs25487
XRCC1
119 0.485 0.679 19 43551574 missense variant T/C snp 0.68 0.72 0.070 0.857 7 2004 2014
dbSNP: rs2294008
rs2294008
PSCA
15 0.724 0.179 8 142680513 5 prime UTR variant C/T snp 0.46 0.45 0.060 1.000 6 2009 2016
dbSNP: rs798766
rs798766
TACC3
4 0.923 0.107 4 1732512 intron variant T/C snp 0.77 0.060 1.000 6 2010 2018
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
60 0.561 0.464 14 103699416 missense variant G/A snp 0.29 0.29 0.050 1.000 5 2004 2014
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
77 0.533 0.643 3 9757089 missense variant C/G snp 0.27 0.22 0.040 1.000 4 2007 2013
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
82 0.525 0.536 19 45351661 stop gained T/A,G snp 4.0E-06; 0.32 0.32 0.040 1.000 4 2011 2014
dbSNP: rs1799793
rs1799793
ERCC2
51 0.585 0.500 19 45364001 missense variant C/A,T snp 7.1E-06; 0.29 0.27 0.040 1.000 4 2008 2014
dbSNP: rs25489
rs25489
XRCC1
48 0.587 0.571 19 43552260 stop lost C/G,T snp 8.5E-06; 7.1E-02 3.2E-05; 5.5E-02 0.040 1.000 4 2010 2014
dbSNP: rs1695
rs1695
GSTP1
100 0.510 0.679 11 67585218 missense variant A/G snp 0.34 0.35 0.030 1.000 3 2002 2013
dbSNP: rs17674580
rs17674580
SLC14A1 ; LOC105372093
3 0.923 0.107 18 45729946 5 prime UTR variant C/A,T snp 0.26 0.030 1.000 3 2012 2015
dbSNP: rs1799782
rs1799782
XRCC1
84 0.523 0.607 19 43553422 stop gained G/A snp 9.5E-02 7.1E-02 0.030 1.000 3 2013 2014