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: rs121912967
rs121912967
DCC
2 0.925 0.080 18 52906134 missense variant T/C snv 0.700 0
dbSNP: rs3829868
rs3829868
CRNN ; FLG-AS1
2 0.925 0.080 1 152409644 missense variant C/T snv 0.21 0.15 0.700 0
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.010 1.000 1 1999 1999
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.010 1.000 1 1999 1999
dbSNP: rs121918714
rs121918714
TGFBR2
1 1.000 0.080 3 30691471 missense variant G/C snv 0.710 1.000 1 2000 2000
dbSNP: rs121912657
rs121912657
TP53
24 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs917870680
rs917870680
MDM2
3 0.925 0.080 12 68839304 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2005 2005
dbSNP: rs750408412
rs750408412
CYP2E1
3 0.925 0.080 10 133538938 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs370426812
rs370426812
FAS
4 0.882 0.200 10 89014312 synonymous variant G/A snv 4.0E-05 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs879253942
rs879253942
TP53
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs752742313
rs752742313
PIK3CB
36 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1805329
rs1805329
RAD23B
15 0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16 0.010 1.000 1 2009 2009
dbSNP: rs756826500
rs756826500
ERCC1
5 0.925 0.080 19 45413705 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs767551092
rs767551092
XPC
10 0.790 0.200 3 14164838 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121912654
rs121912654
TP53
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs201745983
rs201745983
ALDH2
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.010 1.000 1 2010 2010
dbSNP: rs989902
rs989902
PTPN13
12 0.742 0.240 4 86785353 missense variant T/G snv 0.42 0.53 0.010 1.000 1 2010 2010
dbSNP: rs10437048
rs10437048
PADI4
1 1.000 0.080 1 17356224 intron variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs1131691021
rs1131691021
TP53
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs2273953
rs2273953
TP73
5 0.851 0.120 1 3682336 5 prime UTR variant G/A;T snv 0.20; 3.3E-04 0.010 1.000 1 2011 2011
dbSNP: rs2477134
rs2477134
PADI4
1 1.000 0.080 1 17307077 upstream gene variant G/A;T snv 0.010 1.000 1 2011 2011