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: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.700 1.000 2 2010 2018
dbSNP: rs1805007
rs1805007
MC1R
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 2 2007 2018
dbSNP: rs1015362
rs1015362 		3 0.925 0.080 20 34150806 regulatory region variant C/T snv 0.42 0.700 1.000 1 2008 2008
dbSNP: rs1042602
rs1042602
TYR ; LOC107984363
6 0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24 0.700 1.000 1 2007 2007
dbSNP: rs10444039
rs10444039 		1 1.000 0.040 10 117806027 intergenic variant C/A snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs10810635
rs10810635
BNC2
1 1.000 0.040 9 16795243 intron variant T/C snv 9.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs10886142
rs10886142 		1 1.000 0.040 10 117801913 intergenic variant T/C snv 0.47 0.700 1.000 1 2018 2018
dbSNP: rs12259842
rs12259842
HSPA12A
1 1.000 0.040 10 116695732 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12931267
rs12931267
FANCA
4 1.000 0.040 16 89752324 intron variant C/G snv 4.7E-02 0.700 1.000 1 2010 2010
dbSNP: rs1540771
rs1540771
LOC105374875
2 1.000 0.040 6 466033 intron variant C/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs17833789
rs17833789 		8 0.807 0.080 17 57153267 intergenic variant C/A snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs183671
rs183671
SLC45A2
2 1.000 0.040 5 33964105 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2153271
rs2153271
BNC2
3 0.925 0.160 9 16864523 intron variant C/T snv 0.43 0.700 1.000 1 2010 2010
dbSNP: rs251468
rs251468
PPARGC1B
1 1.000 0.040 5 149814922 intron variant C/T snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs35063026
rs35063026
SPATA33
3 0.925 0.080 16 89669749 3 prime UTR variant C/T snv 4.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs4752116
rs4752116 		1 1.000 0.040 10 117823291 downstream gene variant T/C snv 0.72 0.700 1.000 1 2018 2018
dbSNP: rs4911414
rs4911414 		5 0.882 0.120 20 34141638 regulatory region variant T/G snv 0.73 0.700 1.000 1 2008 2008
dbSNP: rs619865
rs619865
EIF6 ; MMP24OS ; MMP24-AS1-EDEM2
2 1.000 0.040 20 35279894 intron variant A/G snv 0.94 0.94 0.700 1.000 1 2010 2010
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2007 2007
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2007 2007
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 2007 2007
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2007 2007
dbSNP: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2007 2007