Source: CURATED ×
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: rs1805007
rs1805007
MC1R
16 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.800 1.000 3 2007 2018
dbSNP: rs1667394
rs1667394
HERC2
5 15 28285036 intron variant C/A;T snv 0.800 1.000 1 2007 2007
dbSNP: rs12913832
rs12913832
HERC2
9 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.800 1.000 4 2008 2018
dbSNP: rs12203592
rs12203592
IRF4
23 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.800 1.000 3 2008 2013
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: rs1015362
rs1015362 		2 0.925 0.080 20 34150806 regulatory region variant C/T snv 0.42 0.700 1.000 1 2008 2008
dbSNP: rs11636232
rs11636232
HERC2
2 15 28141480 synonymous variant C/T snv 0.25 0.26 0.700 1.000 1 2008 2008
dbSNP: rs11855019
rs11855019
OCA2
2 15 28090674 intron variant A/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs164741
rs164741
DPEP1
1 16 89625890 intron variant A/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs2241039
rs2241039
GAS8 ; DBNDD1
1 16 90022029 intron variant G/A snv 0.43 0.700 1.000 1 2008 2008
dbSNP: rs2353033
rs2353033
ANKRD11 ; LOC100287036
2 1.000 0.040 16 89319153 intron variant C/T snv 0.51 0.700 1.000 1 2008 2008
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: 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: rs4238833
rs4238833
AFG3L1P
2 1.000 0.040 16 89984281 intron variant G/T snv 0.60 0.700 1.000 1 2008 2008
dbSNP: rs4408545
rs4408545
AFG3L1P
2 1.000 0.040 16 89977620 non coding transcript exon variant C/G;T snv 0.40 0.700 1.000 1 2008 2008
dbSNP: rs4778138
rs4778138
OCA2
6 0.851 0.080 15 28090674 intron variant A/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs4785763
rs4785763
AFG3L1P
3 0.925 0.120 16 90000528 non coding transcript exon variant A/C;T snv 0.700 1.000 1 2008 2008
dbSNP: rs4911414
rs4911414 		4 0.882 0.120 20 34141638 regulatory region variant T/G snv 0.73 0.700 1.000 1 2008 2008
dbSNP: rs7174027
rs7174027
OCA2
1 15 28083619 intron variant G/A snv 0.23 0.700 1.000 1 2008 2008
dbSNP: rs7188458
rs7188458
SPATA33
2 1.000 0.040 16 89660076 3 prime UTR variant G/A;T snv 0.45 0.700 1.000 1 2008 2008
dbSNP: rs8028689
rs8028689
HERC2
3 15 28243742 intron variant T/C snv 0.16 0.700 1.000 1 2008 2008