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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.700 1.000 3 2009 2015
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.700 1.000 2 2016 2019
dbSNP: rs1800440
rs1800440
CYP1B1
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.700 1.000 5 2011 2019
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 2 2016 2019
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 2011 2019
dbSNP: rs2151280
rs2151280
CDKN2B-AS1
16 0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 0.700 1.000 2 2014 2015
dbSNP: rs12916300
rs12916300
HERC2
13 0.742 0.080 15 28165345 intron variant C/T snv 0.50 0.700 1.000 2 2016 2019
dbSNP: rs16891982
rs16891982
SLC45A2
13 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.700 1.000 1 2019 2019
dbSNP: rs6059655
rs6059655
RALY
10 0.790 0.080 20 34077942 intron variant A/G snv 0.95 0.700 1.000 2 2016 2019
dbSNP: rs231726
rs231726 		7 0.790 0.200 2 203876143 downstream gene variant C/T snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs7907606
rs7907606 		8 0.790 0.120 10 103920874 upstream gene variant T/G snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs7538876
rs7538876
PADI6
6 0.807 0.120 1 17395867 intron variant G/A snv 0.37 0.700 1.000 3 2008 2015
dbSNP: rs12210050
rs12210050
LOC105374875
8 0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 0.700 1.000 2 2011 2016
dbSNP: rs10425559
rs10425559 		7 0.807 0.040 19 4837475 upstream gene variant A/G snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs35407
rs35407
SLC45A2
6 0.807 0.080 5 33946466 3 prime UTR variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs7335046
rs7335046 		7 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 0.700 1.000 1 2011 2011
dbSNP: rs11170164
rs11170164
KRT5
6 0.827 0.120 12 52519884 missense variant C/T snv 5.7E-02 5.3E-02 0.700 1.000 3 2015 2019
dbSNP: rs801114
rs801114 		5 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 0.700 1.000 3 2008 2015
dbSNP: rs10810657
rs10810657 		7 0.827 0.080 9 16884588 regulatory region variant T/A;G snv 0.700 1.000 2 2016 2019
dbSNP: rs663743
rs663743
CCDC88B ; LOC102723878
5 0.827 0.120 11 64340263 5 prime UTR variant G/A snv 0.33 0.25 0.700 1.000 1 2019 2019
dbSNP: rs157935
rs157935
LINC-PINT ; LINC00513
4 0.851 0.040 7 130900794 intron variant T/G snv 0.28 0.700 1.000 2 2014 2015
dbSNP: rs214782
rs214782
TGM3 ; LOC105372503
4 0.851 0.040 20 2301324 intron variant G/A snv 0.73 0.700 1.000 2 2014 2015
dbSNP: rs7006527
rs7006527
RGS22
4 0.851 0.040 8 100012277 intron variant A/C;T snv 0.700 1.000 2 2014 2015