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: rs7563677
rs7563677 		3 0.882 0.040 2 160500206 intergenic variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs8178977
rs8178977
GPX4
3 0.882 0.040 19 1106478 intron variant G/A;C snv 1.2E-05; 0.26 0.700 1.000 1 2019 2019
dbSNP: rs9275642
rs9275642
LOC102725019
3 0.882 0.040 6 32717158 upstream gene variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs9408674
rs9408674
KANK1
3 0.882 0.040 9 681645 intron variant G/A;C snv 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: rs75790006
rs75790006 		4 0.851 0.040 4 43211547 intron variant T/G snv 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs79522206
rs79522206 		3 0.882 0.040 2 7564729 intergenic variant G/A snv 2.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs117744081
rs117744081
CPVL
4 0.851 0.080 7 29092663 missense variant A/G snv 2.2E-02 2.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs41271951
rs41271951
CTSS
4 0.882 0.040 1 150764744 missense variant A/G snv 5.1E-02 5.1E-02 0.700 1.000 1 2019 2019
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: rs9267650
rs9267650 		3 0.882 0.040 6 31857135 downstream gene variant A/T snv 6.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs55818536
rs55818536
JDP2
3 0.882 0.040 14 75470497 3 prime UTR variant G/C snv 7.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs2289702
rs2289702
CTSH
4 0.851 0.120 15 78944951 missense variant C/T snv 9.3E-02 7.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs138501911
rs138501911 		3 0.882 0.040 10 8920514 intergenic variant C/T snv 9.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs35251485
rs35251485
ZFHX4-AS1 ; LOC107986952
3 0.882 0.040 8 76571195 intron variant G/A snv 1.0E-01 0.700 1.000 1 2019 2019
dbSNP: rs28727938
rs28727938
ZFHX4-AS1 ; LOC107986952
3 0.882 0.040 8 76566304 intron variant C/G snv 1.0E-01 0.700 1.000 1 2015 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: rs11741260
rs11741260
FGF10-AS1
3 0.882 0.040 5 44411963 intron variant G/A;C snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs34694416
rs34694416 		3 0.882 0.040 6 32616594 regulatory region variant C/T snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs60269255
rs60269255
HAUS6
3 0.882 0.040 9 19059867 intron variant G/C snv 0.11 0.700 1.000 1 2019 2019
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: rs10093547
rs10093547
ZFHX4-AS1 ; LOC107986952
3 0.882 0.040 8 76562310 intron variant T/G snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs6707137
rs6707137 		4 0.882 0.040 2 88254832 regulatory region variant G/A snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs57244888
rs57244888 		3 0.882 0.040 2 16280877 intron variant T/C snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs6739779
rs6739779 		3 0.882 0.040 2 16299921 intron variant C/T snv 0.14 0.700 1.000 1 2019 2019