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: rs10953316
rs10953316
MUC17
1 1.000 0.040 7 101038481 synonymous variant A/C;G;T snv 8.0E-06; 0.64 0.010 1.000 1 2015 2015
dbSNP: rs10975519
rs10975519
IL33 ; LOC107987046
1 1.000 0.040 9 6253571 synonymous variant C/T snv 0.38 0.35 0.800 1.000 1 2013 2013
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2019 2019
dbSNP: rs1256049
rs1256049
ESR2
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs2072454
rs2072454
EGFR
9 0.763 0.160 7 55146655 synonymous variant C/T snv 0.51 0.51 0.010 1.000 1 2019 2019
dbSNP: rs280523
rs280523
TYK2
2 0.925 0.120 19 10366530 synonymous variant G/A;C snv 7.2E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs500760
rs500760
PGR
3 0.882 0.120 11 101039260 synonymous variant T/C snv 0.24 0.29 0.010 1.000 1 2005 2005
dbSNP: rs700518
rs700518
CYP19A1 ; MIR4713HG
13 0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40 0.010 < 0.001 1 2007 2007
dbSNP: rs6907340
rs6907340
LOC100506885
1 1.000 0.040 6 19803537 non coding transcript exon variant C/T snv 0.47 0.800 1.000 2 2012 2013
dbSNP: rs1055144
rs1055144
LOC100506236
3 1.000 0.040 7 25831489 non coding transcript exon variant C/T snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs10794288
rs10794288
MUC2
1 1.000 0.040 11 1086825 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10902088
rs10902088
MUC2
2 1.000 0.040 11 1090036 non coding transcript exon variant T/C snv 0.73 0.010 1.000 1 2012 2012
dbSNP: rs11245954
rs11245954
MUC2
1 1.000 0.040 11 1107170 non coding transcript exon variant A/G snv 6.7E-02 8.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3756712
rs3756712
PDCD6 ; AHRR
10 0.790 0.160 5 308981 non coding transcript exon variant A/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.060 0.833 6 2007 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.060 0.833 6 2007 2016
dbSNP: rs2070074
rs2070074
GALT
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.050 0.800 5 1996 2006
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.050 0.600 5 2003 2016
dbSNP: rs605059
rs605059
HSD17B1 ; LOC108783654
15 0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05 0.050 0.800 5 2005 2017
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.040 0.500 4 2003 2016
dbSNP: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.040 1.000 4 2011 2018
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.030 1.000 3 2009 2017
dbSNP: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.030 1.000 3 2013 2015