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: rs12821256
rs12821256 		2 12 88934558 TF binding site variant T/A;C;G snv 0.800 1.000 4 2007 2018
dbSNP: rs12896399
rs12896399
LOC105370627
3 14 92307319 intergenic variant G/T snv 0.32 0.800 1.000 4 2007 2013
dbSNP: rs12913832
rs12913832
HERC2
15 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.800 1.000 4 2008 2018
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.800 1.000 3 2008 2013
dbSNP: rs16891982
rs16891982
SLC45A2
13 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.800 1.000 3 2010 2018
dbSNP: rs1805007
rs1805007
MC1R
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.800 1.000 3 2007 2018
dbSNP: rs6918152
rs6918152
EXOC2
1 6 542159 intron variant A/G snv 0.47 0.800 1.000 2 2008 2018
dbSNP: rs7495174
rs7495174
OCA2
3 15 28099092 intron variant A/G snv 0.12 0.800 1.000 2 2008 2015
dbSNP: rs12931267
rs12931267
FANCA
4 1.000 0.040 16 89752324 intron variant C/G snv 4.7E-02 0.800 1.000 1 2010 2010
dbSNP: rs13263959
rs13263959 		1 8 141622215 intron variant T/C snv 0.78 0.800 1.000 1 2010 2010
dbSNP: rs13289810
rs13289810 		1 9 12396731 intergenic variant A/G snv 0.28 0.800 1.000 1 2012 2012
dbSNP: rs1667394
rs1667394
HERC2
5 15 28285036 intron variant C/A;T snv 0.800 1.000 1 2007 2007
dbSNP: rs258322
rs258322
CDK10
3 0.925 0.120 16 89689495 intron variant A/G;T snv 0.800 1.000 1 2008 2008
dbSNP: rs28777
rs28777
SLC45A2
1 5 33958854 intron variant C/A snv 0.70 0.800 1.000 1 2008 2008
dbSNP: rs291671
rs291671
CDK5RAP1
2 1.000 0.040 20 33363039 intron variant G/A snv 0.92 0.800 1.000 1 2010 2010
dbSNP: rs35264875
rs35264875
TPCN2
2 11 69078931 missense variant A/C;T snv 4.0E-06; 0.16 0.800 1.000 1 2008 2008
dbSNP: rs3750965
rs3750965
TPCN2
1 11 69072692 missense variant A/G snv 0.29 0.27 0.800 1.000 1 2010 2010
dbSNP: rs4935969
rs4935969
ST3GAL4 ; KIRREL3
1 11 126426694 intron variant C/T snv 0.37 0.800 1.000 1 2010 2010
dbSNP: rs8033165
rs8033165 		1 15 28760947 downstream gene variant C/T snv 0.32 0.800 1.000 1 2008 2008
dbSNP: rs975739
rs975739
EDNRB-AS1 ; LOC112268121
1 13 77807011 intron variant G/T snv 0.55 0.800 1.000 1 2013 2013
dbSNP: rs10114314
rs10114314
LOC107987037
1 9 124046509 intergenic variant C/T snv 0.24 0.700 1.000 1 2018 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: rs10169459
rs10169459 		1 2 221186699 intergenic variant T/C snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs1026872
rs1026872
ARHGAP24
1 4 85680478 intron variant A/T snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs1036464
rs1036464 		1 20 59266631 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018