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: rs7006527
rs7006527
RGS22
4 0.851 0.040 8 100012277 intron variant A/C;T snv 0.700 1.000 2 2014 2015
dbSNP: rs73183643
rs73183643 		3 0.882 0.040 7 101775373 intergenic variant G/A snv 0.17 0.700 1.000 2 2016 2019
dbSNP: rs9419958
rs9419958
STN1
5 0.851 0.040 10 103916188 intron variant T/C snv 0.75 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: rs7859034
rs7859034
SMC2
4 0.851 0.120 9 104103411 intron variant G/T snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs535930
rs535930
SLC6A17
3 0.882 0.040 1 110181866 intron variant G/A snv 0.48 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: rs1765871
rs1765871
ATP11A
3 0.882 0.040 13 112879337 intron variant C/A snv 0.53 0.700 1.000 1 2019 2019
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: rs12466910
rs12466910 		3 0.882 0.040 2 11386590 downstream gene variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2721936
rs2721936
TRPS1
3 0.882 0.040 8 115620592 intron variant A/T snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs13261635
rs13261635
COLEC10 ; LOC101927513
3 0.882 0.040 8 119070732 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs125124
rs125124
LINC-PINT ; LINC00513
3 0.882 0.040 7 130899925 intron variant C/G snv 0.28 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: 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: rs421284
rs421284
CLPTM1L
3 0.882 0.040 5 1325475 non coding transcript exon variant T/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs1887004
rs1887004
FRMD4A
3 0.882 0.040 10 13698917 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs109077
rs109077
PPARGC1B
3 0.882 0.040 5 149817119 intron variant T/G snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs12205199
rs12205199 		3 0.882 0.040 6 150032420 upstream gene variant C/A;T snv 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: rs1870940
rs1870940
ZBTB7B
4 0.851 0.080 1 155011887 intron variant G/A snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs7563677
rs7563677 		3 0.882 0.040 2 160500206 intergenic variant C/A;G snv 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
dbSNP: rs4710154
rs4710154 		3 0.882 0.040 6 166981146 intron variant A/T snv 0.42 0.700 1.000 2 2016 2019