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: rs121913105
rs121913105
FGFR3
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
dbSNP: rs121913482
rs121913482
FGFR3
45 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
dbSNP: rs28933068
rs28933068
FGFR3
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.700 0
dbSNP: rs4647924
rs4647924
FGFR3
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs1003897973
rs1003897973
TRIP10 ; LOC107985302
3 0.882 0.080 19 6746039 missense variant C/G snv 0.010 < 0.001 1 2002 2002
dbSNP: rs281860374
rs281860374
HLA-B ; HLA-C
3 0.882 0.080 6 31271730 missense variant G/C snv 0.010 < 0.001 1 2002 2002
dbSNP: rs9298814
rs9298814
IFNA17
7 0.790 0.160 9 21227623 missense variant A/C;G snv 0.12; 8.8E-06 0.010 1.000 1 2003 2003
dbSNP: rs587782329
rs587782329
TP53
23 0.677 0.280 17 7674217 missense variant C/A;G;T snv 0.020 1.000 2 2000 2004
dbSNP: rs786202962
rs786202962
TP53
21 0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs768873896
rs768873896
MTHFR
7 0.790 0.160 1 11794822 missense variant C/G;T snv 8.0E-06; 2.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2007 2007
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008
dbSNP: rs3087386
rs3087386
REV1
8 0.790 0.160 2 99439044 missense variant A/G snv 0.58 0.61 0.010 1.000 1 2008 2008
dbSNP: rs3087399
rs3087399
REV1
4 0.882 0.120 2 99438696 missense variant T/C snv 0.13 0.17 0.010 1.000 1 2008 2008
dbSNP: rs8305
rs8305
POLI
4 0.882 0.120 18 54294435 missense variant G/A snv 0.72 0.78 0.010 < 0.001 1 2008 2008
dbSNP: rs1041981
rs1041981
LTA ; LOC100287329
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2009 2009
dbSNP: rs17885289
rs17885289
CXCL12
3 0.882 0.080 10 44386212 non coding transcript exon variant C/T snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2009 2009
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.010 1.000 1 2009 2009
dbSNP: rs266093
rs266093
CXCL12
3 0.882 0.080 10 44370760 3 prime UTR variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.010 1.000 1 2009 2009