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: rs1060503115
rs1060503115
PMS2
13 0.763 0.400 7 5978664 missense variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs121913245
rs121913245
MET
3 0.925 0.120 7 116783420 missense variant T/C snv 0.700 1.000 1 1998 1998
dbSNP: rs121913246
rs121913246
MET
7 0.827 0.200 7 116783360 missense variant A/G snv 0.700 1.000 1 1998 1998
dbSNP: rs121913273
rs121913273
PIK3CA
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs121913400
rs121913400
CTNNB1
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.010 1.000 1 2001 2001
dbSNP: rs121913403
rs121913403
CTNNB1
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.010 1.000 1 1998 1998
dbSNP: rs121913412
rs121913412
CTNNB1
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.010 1.000 1 1998 1998
dbSNP: rs121913480
rs121913480
FGFR3
2 1.000 0.120 4 1806604 missense variant G/T snv 0.700 1.000 1 2005 2005
dbSNP: rs121913482
rs121913482
FGFR3
45 0.630 0.680 4 1801837 missense variant C/T snv 0.700 1.000 1 1999 1999
dbSNP: rs121913484
rs121913484
FGFR3
5 0.851 0.240 4 1804365 missense variant A/T snv 0.700 1.000 1 2002 2002
dbSNP: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 1 2001 2001
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121913671
rs121913671
MET
4 0.882 0.160 7 116783353 missense variant G/A;C snv 0.700 1.000 1 1998 1998
dbSNP: rs1258159645
rs1258159645
NQO1
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1383461329
rs1383461329
KMT5A
2 1.000 0.120 12 123389469 missense variant C/T snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1400966919
rs1400966919
FGFR4
3 0.925 0.240 5 177096737 missense variant G/A snv 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs1418016570
rs1418016570
PRKN
1 6 161973326 missense variant G/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.010 1.000 1 2005 2005