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: 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: 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: 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: rs1887004
rs1887004
FRMD4A
3 0.882 0.040 10 13698917 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs191177147
rs191177147
LPP
3 0.882 0.040 3 188374758 intron variant G/T snv 0.700 1.000 1 2016 2016
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: rs2080303
rs2080303
FLACC1
3 0.882 0.040 2 201300483 intron variant T/C snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs209901
rs209901 		3 0.882 0.040 20 39117811 regulatory region variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2116709
rs2116709
FOXP1 ; FOXP1-IT1
3 0.882 0.040 3 71572518 non coding transcript exon variant T/A snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs214785
rs214785
TGM3 ; LOC105372503
3 0.882 0.040 20 2302811 intron variant C/T snv 0.73 0.700 1.000 1 2016 2016
dbSNP: rs214803
rs214803
TGM3
4 0.851 0.040 20 2309687 missense variant C/A;G;T snv 0.82; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs2199333
rs2199333
RGS22
3 0.882 0.040 8 99999120 intron variant C/G;T snv 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: 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: 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: 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: 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: 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: rs3213737
rs3213737
HAL
3 0.882 0.040 12 95986028 intron variant G/A snv 0.53 0.48 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: 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: 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: 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