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: rs16891982
rs16891982
SLC45A2
13 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.800 1.000 3 2007 2018
dbSNP: rs1042602
rs1042602
TYR ; LOC107984363
6 0.925 0.080 11 89178528 missense variant C/A snv 0.25 0.24 0.800 1.000 2 2007 2018
dbSNP: rs1834640
rs1834640 		1 15 48099968 intergenic variant A/G snv 0.29 0.800 1.000 1 2007 2007
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.700 1.000 3 2013 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 3 2013 2018
dbSNP: rs12913832
rs12913832
HERC2
15 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.700 1.000 2 2015 2018
dbSNP: rs1667392
rs1667392
HERC2
2 15 28288419 intron variant G/A;C;T snv 0.700 1.000 2 2015 2018
dbSNP: rs183671
rs183671
SLC45A2
2 1.000 0.040 5 33964105 intron variant T/A;G snv 0.700 1.000 2 2015 2018
dbSNP: rs10519170
rs10519170 		2 15 48393978 regulatory region variant A/G snv 0.18 0.700 1.000 1 2007 2007
dbSNP: rs10810657
rs10810657 		7 0.827 0.080 9 16884588 regulatory region variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs11070627
rs11070627
SLC12A1 ; MYEF2 ; CTXN2
1 15 48179327 intron variant A/T snv 0.83 0.700 1.000 1 2007 2007
dbSNP: rs1110400
rs1110400
MC1R
3 1.000 0.040 16 89919722 missense variant T/C snv 5.6E-03 6.6E-03 0.700 1.000 1 2015 2015
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 1.000 1 2018 2018
dbSNP: rs1129038
rs1129038
HERC2
8 0.851 0.120 15 28111713 3 prime UTR variant C/T snv 0.49 0.50 0.700 1.000 1 2018 2018
dbSNP: rs11637235
rs11637235
DUT
2 1.000 0.040 15 48340956 intron variant C/T snv 0.54 0.700 1.000 1 2007 2007
dbSNP: rs117307642
rs117307642
SLFN12L
1 17 35496079 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11854994
rs11854994
SHC4
1 15 48907195 intron variant G/A snv 0.35 0.700 1.000 1 2007 2007
dbSNP: rs12202284
rs12202284
LOC105374875
3 0.925 0.080 6 471136 intron variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs12295166
rs12295166
TYR ; LOC107984363
1 11 89242989 intron variant T/C snv 0.25 0.700 1.000 1 2007 2007
dbSNP: rs12913316
rs12913316
SLC12A1 ; CTXN2
1 15 48195657 intron variant C/T snv 0.81 0.700 1.000 1 2007 2007
dbSNP: rs12931267
rs12931267
FANCA
4 1.000 0.040 16 89752324 intron variant C/G snv 4.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs1320052
rs1320052
SLC12A1 ; CTXN2
1 15 48203311 3 prime UTR variant C/T snv 0.83 0.700 1.000 1 2007 2007
dbSNP: rs1426654
rs1426654
MYEF2 ; SLC24A5
3 1.000 15 48134287 missense variant A/G;T snv 0.23 0.700 1.000 1 2007 2007
dbSNP: rs151165649
rs151165649
PRTFDC1
1 10 24918312 intron variant G/A snv 6.9E-03 0.700 1.000 1 2017 2017
dbSNP: rs1531916
rs1531916
SLC12A1 ; LOC107984756
1 15 48234074 intron variant G/A snv 0.75 0.700 1.000 1 2007 2007