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: rs587779021
rs587779021
MLH1
4 0.851 0.200 3 37008905 missense variant G/A;C snv 0.700 0
dbSNP: rs587779157
rs587779157
MSH2
6 0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins 0.700 0
dbSNP: rs587780226
rs587780226
BRIP1
4 0.882 0.280 17 61799125 stop gained G/A;T snv 1.2E-05 0.700 0
dbSNP: rs587782705
rs587782705
TP53
8 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs63750206
rs63750206
MLH1
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 0
dbSNP: rs63750547
rs63750547
MLH1
3 0.925 0.160 3 37020312 stop gained T/C;G snv 4.0E-06 0.700 0
dbSNP: rs63750691
rs63750691
MLH1
4 0.882 0.160 3 37017521 stop gained C/G snv 0.700 0
dbSNP: rs63750767
rs63750767
MSH6 ; FBXO11
4 0.925 0.160 2 47806588 stop gained -/TCAAAAGGGACATAGAAAA delins 7.0E-06 0.700 0
dbSNP: rs63750781
rs63750781
MLH1
6 0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs63751207
rs63751207
MSH2
6 0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs864622607
rs864622607
MSH6 ; FBXO11
3 0.882 0.200 2 47803678 missense variant T/G snv 0.700 0
dbSNP: rs869312768
rs869312768
MSH2
2 0.925 0.160 2 47429865 frameshift variant -/TT delins 0.700 0
dbSNP: rs869312770
rs869312770
MSH6 ; FBXO11
3 0.925 0.160 2 47800829 frameshift variant AG/- delins 0.700 0
dbSNP: rs869312775
rs869312775
PTEN
2 0.925 0.120 10 87933103 missense variant A/G snv 0.700 0
dbSNP: rs869312781
rs869312781
SMAD4
2 1.000 0.080 18 51058435 frameshift variant CCCCATCCCG/- delins 0.700 0
dbSNP: rs869312783
rs869312783
BMPR1A
2 1.000 0.080 10 86892181 frameshift variant -/TTAG delins 0.700 0
dbSNP: rs989026404
rs989026404
MAP2K3
1 1.000 0.080 17 21304500 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs10759932
rs10759932
TLR4
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 < 0.001 1 2009 2009
dbSNP: rs11539752
rs11539752
GZMB ; LOC107984667
6 0.882 0.120 14 24632383 missense variant G/C snv 0.21 0.26 0.010 < 0.001 1 2015 2015
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2008 2008
dbSNP: rs1238788540
rs1238788540
BRAF
2 0.925 0.080 7 140800368 missense variant G/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 < 0.001 1 2017 2017
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs2236338
rs2236338
GZMB
6 0.851 0.120 14 24631076 missense variant A/G snv 0.24 0.25 0.010 < 0.001 1 2015 2015