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: rs1057520030
rs1057520030
MET
1 7 116777427 missense variant A/G;T snv 0.700 1.000 1 2002 2002
dbSNP: rs1418016570
rs1418016570
PRKN
1 6 161973326 missense variant G/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs369999291
rs369999291
APC
2 5 112767315 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs6842
rs6842
AGR2
1 7 16794973 missense variant A/G;T snv 0.43 0.38 0.010 1.000 1 2009 2009
dbSNP: rs767606327
rs767606327
MTTP
2 4 99613118 missense variant T/C;G snv 1.2E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs863224683
rs863224683
TP53
4 17 7675224 missense variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs876659156
rs876659156
APC
1 5 112839714 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs121434265
rs121434265
CDC73 ; LOC101929160
3 0.925 0.080 1 193125142 stop gained C/G snv 0.010 1.000 1 2018 2018
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: rs188957694
rs188957694
ESR1
6 0.882 0.080 6 151944218 missense variant G/A;C snv 4.0E-05 4.9E-05 0.010 1.000 1 2005 2005
dbSNP: rs796065354
rs796065354
ESR1
9 0.882 0.080 6 151944320 missense variant A/G snv 0.010 < 0.001 1 2005 2005
dbSNP: rs1049074086
rs1049074086
CTSD
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1057519824
rs1057519824
MET
10 0.807 0.120 7 116783374 missense variant T/G snv 0.700 1.000 1 2002 2002
dbSNP: rs1057519855
rs1057519855
HRAS ; LRRC56
11 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 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: rs121913480
rs121913480
FGFR3
2 1.000 0.120 4 1806604 missense variant G/T snv 0.700 1.000 1 2005 2005
dbSNP: rs1245554802
rs1245554802
OGG1 ; CAMK1
5 0.851 0.120 3 9765892 splice acceptor variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
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: rs202003805
rs202003805
PRSS1
6 0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs35690297
rs35690297
PMS2
5 1.000 0.120 7 6002584 start lost T/A;C snv 0.010 < 0.001 1 2009 2009
dbSNP: rs368094521
rs368094521
ERBB2 ; MIR4728
5 0.925 0.120 17 39724861 missense variant G/A snv 1.2E-03 2.6E-04 0.010 1.000 1 2009 2009
dbSNP: rs3789243
rs3789243
ABCB1
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.010 < 0.001 1 2009 2009
dbSNP: rs587779383
rs587779383
FGFR3
5 0.851 0.120 4 1806157 missense variant A/C;G;T snv 0.700 1.000 1 1998 1998
dbSNP: rs61748181
rs61748181
TERT
10 0.827 0.120 5 1294051 missense variant C/T snv 2.2E-02 2.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs768824654
rs768824654
MSH2
6 1.000 0.120 2 47403390 start lost A/G snv 7.0E-06 0.010 < 0.001 1 2009 2009