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: rs749475591
rs749475591
PSMD2
2 3 184302007 missense variant G/C snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs766295553
rs766295553
XPNPEP3 ; DNAJB7
2 22 40861433 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs769013954
rs769013954
ALDH9A1
4 0.925 0.120 1 165682137 missense variant A/G snv 2.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs771138120
rs771138120
CDKN2A
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.010 1.000 1 2002 2002
dbSNP: rs771314938
rs771314938
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 frameshift variant CG/- del 0.010 1.000 1 2002 2002
dbSNP: rs78478128
rs78478128
G6PD
7 0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04 0.010 1.000 1 2002 2002
dbSNP: rs865862446
rs865862446
FANCD2
5 0.882 0.200 3 10049416 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs879625015
rs879625015
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 frameshift variant CG/A delins 0.010 1.000 1 2002 2002
dbSNP: rs941759532
rs941759532
ERCC4
11 0.763 0.240 16 13932175 missense variant C/G snv 0.010 1.000 1 2002 2002
dbSNP: rs4987046
rs4987046
BRCA2
4 0.925 0.160 13 32319134 missense variant A/G snv 1.6E-03 1.6E-03 0.010 1.000 1 2003 2003
dbSNP: rs121908568
rs121908568
AXIN2
9 0.807 0.160 17 65536495 stop gained G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs1223231582
rs1223231582
PRSS1
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1439772141
rs1439772141
APC
2 5 112837677 missense variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2004 2004
dbSNP: rs63750899
rs63750899
MLH1
7 0.851 0.200 3 37048562 missense variant C/G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
14 0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs755105138
rs755105138
APC
2 5 112837554 missense variant C/A;G snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs780406337
rs780406337
MLH1
3 1.000 0.160 3 37048919 missense variant G/C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs876659384
rs876659384
TP53
7 0.851 0.240 17 7673552 stop gained C/A snv 0.010 1.000 1 2004 2004
dbSNP: rs748876625
rs748876625
BRCA1
10 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.020 1.000 2 2000 2005
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
6 0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs11544193
rs11544193
GSPT1 ; LOC112268177
2 16 11915447 missense variant C/A snv 0.48 0.43 0.010 < 0.001 1 2005 2005
dbSNP: rs1356844630
rs1356844630
GLI1
5 0.925 0.160 12 57470802 stop gained C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1380228918
rs1380228918
ERCC2
3 1.000 0.040 19 45364065 synonymous variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs143810759
rs143810759
LIG4
6 0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04 0.010 1.000 1 2005 2005