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: rs42905
rs42905 		3 0.882 0.040 5 68455394 regulatory region variant A/C snv 0.53 0.700 1.000 1 2019 2019
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: rs57142672
rs57142672
RCC2
3 0.882 0.040 1 17418040 intron variant A/C;G;T snv 0.700 1.000 1 2016 2016
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: rs2294214
rs2294214
CASC15
6 0.882 0.040 6 22056694 splice region variant A/C;T snv 0.700 1.000 1 2016 2016
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: rs10228836
rs10228836
SPATA48
3 0.882 0.040 7 50136567 intron variant A/G snv 0.49 0.700 1.000 1 2019 2019
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: 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: rs1927729
rs1927729
GPR183 ; UBAC2
3 0.882 0.040 13 99303544 intron variant A/G snv 0.17 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: rs35540156
rs35540156
FOXP1
3 0.882 0.040 3 71473027 intron variant A/G snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs3769823
rs3769823
CASP8
6 0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 0.700 1.000 1 2017 2017
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: rs61824911
rs61824911 		3 0.882 0.040 1 228843990 intergenic variant A/G snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs700755
rs700755
TNS3
3 0.882 0.040 7 47406044 intron variant A/G snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs4149909
rs4149909
EXO1
3 0.882 0.040 1 241860596 missense variant A/G;T snv 2.4E-02; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs59586681
rs59586681 		4 0.851 0.040 20 2239664 intron variant A/G;T snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs2776353
rs2776353
LOC105372813 ; LOC107985478
3 0.882 0.040 21 41668857 regulatory region variant A/T snv 0.39 0.700 1.000 2 2016 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
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: 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: 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: rs10424978
rs10424978 		4 0.851 0.080 19 4837545 upstream gene variant C/A;G snv 0.700 1.000 1 2019 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