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: rs1131691003
rs1131691003
TP53
12 0.752 0.360 17 7676381 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
12 0.752 0.360 17 7675052 splice donor variant C/T snv 0.700 0
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs55832599
rs55832599
TP53
18 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 1995 1995
dbSNP: rs1801270
rs1801270
CDKN1A
22 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 0.010 1.000 1 1995 1995
dbSNP: rs770251749
rs770251749
MLIP
2 1.000 0.120 6 54121506 missense variant A/C snv 4.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs886039484
rs886039484
TP53
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 1995 1995
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2001 2001
dbSNP: rs2275531
rs2275531
PIGR
1 1.000 0.120 1 206935771 missense variant C/G;T snv 0.38 0.010 1.000 1 2003 2003
dbSNP: rs291102
rs291102
PIGR
1 1.000 0.120 1 206933133 missense variant G/A;C snv 0.10 0.010 1.000 1 2003 2003
dbSNP: rs2269432
rs2269432
HYAL3 ; NAA80
3 0.882 0.120 3 50296800 missense variant T/A;G snv 0.13 0.010 1.000 1 2004 2004
dbSNP: rs28942108
rs28942108
NPC1
3 0.882 0.280 18 23538651 missense variant G/A snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs55724504
rs55724504
NPC1
2 0.925 0.280 18 23534476 synonymous variant C/A;T snv 2.6E-03; 1.3E-04 0.010 1.000 1 2005 2005
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2007 2007
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2008 2008
dbSNP: rs232228
rs232228 		1 1.000 0.120 2 88859459 intron variant G/A snv 0.15 0.010 1.000 1 2008 2008
dbSNP: rs232230
rs232230
IGKC
1 1.000 0.120 2 88857435 missense variant C/G snv 0.14 0.17 0.010 1.000 1 2008 2008
dbSNP: rs1536826
rs1536826
CYP2E1
1 1.000 0.120 10 133543735 intron variant A/C snv 0.62 0.010 1.000 1 2009 2009
dbSNP: rs1610588
rs1610588 		1 1.000 0.120 6 29708939 upstream gene variant C/T snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs1610742
rs1610742 		1 1.000 0.120 6 29710175 upstream gene variant T/C snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs169111
rs169111
ITGA9
1 1.000 0.120 3 37474042 intron variant C/T snv 0.84 0.700 1.000 1 2009 2009
dbSNP: rs169188
rs169188
ITGA9
1 1.000 0.120 3 37465958 intron variant G/A snv 7.6E-02 0.700 1.000 1 2009 2009