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: rs11225395
rs11225395
MMP8
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1155563
rs1155563
GC
4 0.925 0.080 4 71777771 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs12418451
rs12418451
LOC338694 ; LOC105369366
3 0.882 0.080 11 69167951 intron variant G/A snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs12621278
rs12621278
ITGA6
7 0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs12913832
rs12913832
HERC2
15 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs1351383
rs1351383
PSMB9 ; TAP1
1 1.000 0.040 6 32854492 intron variant A/C snv 0.43 0.010 < 0.001 1 2013 2013
dbSNP: rs139996880
rs139996880
TERT
3 0.882 0.120 5 1284538 intron variant G/A snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1636744
rs1636744
AHR
4 0.851 0.080 7 16944656 intron variant C/T snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs1639679
rs1639679
BRAF
1 1.000 0.040 7 140778454 intron variant G/T snv 9.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs16901979
rs16901979
PCAT1 ; CASC19
17 0.724 0.480 8 127112671 intron variant C/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs17817117
rs17817117
ABCB5
1 1.000 0.040 7 20685203 intron variant G/C snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs1847134
rs1847134
TYR ; LOC107984363
3 0.925 0.080 11 89272085 intron variant A/C snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs187843643
rs187843643
LINC02218
1 1.000 0.040 5 17453974 intron variant C/T snv 3.9E-03 0.710 1.000 1 2017 2017
dbSNP: rs1990330
rs1990330
TEAD4
2 0.925 0.080 12 3038296 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs201131773
rs201131773
MTAP
1 1.000 0.040 9 21805207 intron variant -/AC delins 0.700 1.000 1 2017 2017
dbSNP: rs2074560
rs2074560
MX2
2 0.925 0.040 21 41380411 intron variant A/G snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs2107301
rs2107301
VDR
7 0.807 0.120 12 47861787 intron variant G/A snv 0.26 0.010 < 0.001 1 2012 2012
dbSNP: rs215605
rs215605
PDE1C
2 1.000 0.040 7 32297353 intron variant G/T snv 0.54 0.010 1.000 1 2016 2016
dbSNP: rs222016
rs222016
GC
3 0.882 0.120 4 71769258 intron variant G/A snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs2234663
rs2234663
IL1RN
14 0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 0.010 1.000 1 2019 2019
dbSNP: rs2237028
rs2237028
KIT
1 1.000 0.040 4 54670209 intron variant T/G snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs2242652
rs2242652
TERT
16 0.724 0.400 5 1279913 intron variant G/A snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs228437
rs228437 		1 1.000 0.040 6 134577318 intron variant C/A;G;T snv 0.700 1.000 1 2011 2011