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: rs288139
rs288139
FBXL17
1 5 108064804 intron variant G/A snv 0.20 0.800 1.000 1 2012 2012
dbSNP: rs1408799
rs1408799 		1 9 12672097 intergenic variant T/C snv 0.51 0.800 1.000 3 2008 2018
dbSNP: rs3002288
rs3002288
VASH2
1 1 212953223 intron variant G/A snv 0.35 0.800 1.000 1 2013 2013
dbSNP: rs72776813
rs72776813 		1 2 2788303 intron variant G/A snv 4.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs76930569
rs76930569
OCA2
1 15 27950999 intron variant C/T snv 1.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs7173419
rs7173419
OCA2
1 15 27951675 intron variant T/C snv 0.60 0.800 1.000 1 2013 2013
dbSNP: rs11855019
rs11855019
OCA2
2 15 28090674 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7495174
rs7495174
OCA2
3 15 28099092 intron variant A/G snv 0.12 0.700 1.000 1 2013 2013
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 2013 2013
dbSNP: rs12593929
rs12593929
HERC2
1 15 28114112 intron variant G/A snv 0.78 0.700 1.000 1 2013 2013
dbSNP: rs12913832
rs12913832
HERC2
15 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.800 1.000 4 2010 2013
dbSNP: rs3935591
rs3935591
HERC2
1 15 28128866 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs11636232
rs11636232
HERC2
2 15 28141480 synonymous variant C/T snv 0.25 0.26 0.700 1.000 1 2013 2013
dbSNP: rs8028689
rs8028689
HERC2
3 15 28243742 intron variant T/C snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs916977
rs916977
HERC2
5 1.000 0.080 15 28268218 intron variant T/C;G snv 0.800 1.000 2 2008 2013
dbSNP: rs8039195
rs8039195
HERC2
3 15 28270938 intron variant C/T snv 0.65 0.700 1.000 1 2012 2012
dbSNP: rs16950987
rs16950987
HERC2
2 15 28281082 intron variant G/A snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs1667394
rs1667394
HERC2
5 15 28285036 intron variant C/A;T snv 0.800 1.000 4 2007 2018
dbSNP: rs1635168
rs1635168
HERC2
3 1.000 0.040 15 28290120 intron variant A/C snv 0.77 0.700 1.000 1 2012 2012
dbSNP: rs16891982
rs16891982
SLC45A2
13 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.800 1.000 2 2010 2018
dbSNP: rs1003719
rs1003719
TTC3
1 21 37118795 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.800 1.000 2 2010 2018
dbSNP: rs12520016
rs12520016
LOC102724943 ; LINC02236
1 5 6767199 intron variant T/A;G snv 0.800 1.000 1 2013 2013
dbSNP: rs2278745
rs2278745
HK1
1 10 69392335 intron variant T/C snv 0.56 0.57 0.700 1.000 1 2017 2017
dbSNP: rs12510870
rs12510870
AFM
1 4 73492560 intron variant T/C snv 0.17 0.700 1.000 1 2017 2017