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: rs760253622
rs760253622
PTCH1
3 0.925 0.040 9 95506428 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
dbSNP: rs7297245
rs7297245
HAL
4 0.882 0.040 12 95980836 missense variant C/T snv 0.85 0.86 0.010 < 0.001 1 2008 2008
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2006 2009
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2006 2009
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2006 2009
dbSNP: rs11170164
rs11170164
KRT5
6 0.827 0.120 12 52519884 missense variant C/T snv 5.7E-02 5.3E-02 0.010 1.000 1 2009 2009
dbSNP: rs121913403
rs121913403
CTNNB1
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs16891982
rs16891982
SLC45A2
13 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.010 1.000 1 2009 2009
dbSNP: rs1800407
rs1800407
OCA2
10 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs749496294
rs749496294
ATRN
3 0.925 0.040 20 3562435 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs768043782
rs768043782
CDKN2B ; CDKN2B-AS1
2 1.000 0.040 9 22005994 missense variant C/T snv 8.6E-06 0.010 1.000 1 2009 2009
dbSNP: rs893729101
rs893729101
CLPTM1L
2 1.000 0.040 5 1341708 missense variant T/C snv 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.020 1.000 2 2008 2011
dbSNP: rs12202284
rs12202284
LOC105374875
3 0.925 0.080 6 471136 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs12210050
rs12210050
LOC105374875
8 0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 0.710 1.000 1 2011 2011
dbSNP: rs12951053
rs12951053
TP53
14 0.732 0.160 17 7674089 intron variant A/C snv 0.10 0.010 1.000 1 2011 2011
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs7335046
rs7335046 		7 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 0.710 1.000 1 2011 2011
dbSNP: rs749140677
rs749140677
VDR
13 0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs2228527
rs2228527
ERCC6
3 0.925 0.080 10 49470323 missense variant T/C snv 0.22 0.20 0.010 1.000 1 2012 2012
dbSNP: rs2228529
rs2228529
ERCC6
4 0.925 0.080 10 49459059 missense variant T/C snv 0.22 0.19 0.010 1.000 1 2012 2012