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: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.740 1.000 6 2009 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.333 3 2004 2015
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.030 1.000 3 2011 2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.667 3 1999 2005
dbSNP: rs17710891
rs17710891
SMO
2 0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05 0.700 1.000 3 2009 2015
dbSNP: rs1805007
rs1805007
MC1R
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.730 1.000 3 2009 2015
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: 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: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2011 2017
dbSNP: rs2228479
rs2228479
MC1R
11 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.020 0.500 2 1999 2006
dbSNP: rs7538876
rs7538876
PADI6
6 0.807 0.120 1 17395867 intron variant G/A snv 0.37 0.700 1.000 2 2008 2014
dbSNP: rs801114
rs801114 		5 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 0.700 1.000 2 2008 2014
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2006 2014
dbSNP: rs1036980234
rs1036980234
PTCH1
6 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs104894040
rs104894040
SHH
4 0.882 0.160 7 155806509 missense variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs104894049
rs104894049
SHH
3 0.925 0.120 7 155806527 missense variant T/A snv 0.010 1.000 1 2016 2016
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: 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: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2014 2014
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: rs13014235
rs13014235
FLACC1
5 0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 0.010 1.000 1 2017 2017
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: 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