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: rs11935941
rs11935941
LOC107986195
2 1.000 0.040 4 148731326 intron variant A/C snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs12492609
rs12492609
TMEM39A
3 0.882 0.040 3 119435715 intron variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs12507813
rs12507813 		1 1.000 0.040 4 165013422 upstream gene variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12551356
rs12551356 		1 1.000 0.040 9 74698280 intergenic variant G/T snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs12730735
rs12730735
PTPN22 ; AP4B1-AS1
1 1.000 0.040 1 113838835 intron variant T/C snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs12944194
rs12944194 		1 1.000 0.040 17 73850424 intergenic variant T/C snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs1537424
rs1537424
LINC00609
3 1.000 0.040 14 36104812 intron variant C/T snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs165501
rs165501
IRAK2
1 1.000 0.040 3 10167559 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2009895
rs2009895
SELENOS
1 1.000 0.040 15 101276024 intron variant C/A;T snv 3.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs2056252
rs2056252
TRIM60
2 1.000 0.040 4 165026338 non coding transcript exon variant G/A snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2227478
rs2227478
IL22 ; LOC105369818
2 0.925 0.040 12 68254842 upstream gene variant A/G snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs2298213
rs2298213
TNFRSF18
1 1.000 0.040 1 1203822 synonymous variant T/C snv 9.1E-02 0.17 0.010 1.000 1 2011 2011
dbSNP: rs3027452
rs3027452
MAOB
1 1.000 0.040 X 43798542 intron variant G/A snv 0.13 0.010 1.000 1 2020 2020
dbSNP: rs6972286
rs6972286 		2 1.000 0.040 7 118685680 intergenic variant A/T snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs7085433
rs7085433
TIMM23
4 1.000 0.040 10 46002468 intron variant C/T snv 9.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs7178239
rs7178239 		2 1.000 0.040 15 101267907 downstream gene variant C/G snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs75201096
rs75201096
GNA14 ; GNA14-AS1
1 1.000 0.040 9 77483984 intron variant T/C snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs756763
rs756763
CA10
2 1.000 0.040 17 51671952 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs7629750
rs7629750
TMEM39A
3 0.882 0.040 3 119455829 intron variant A/G snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs791903
rs791903
IP6K3
1 1.000 0.040 6 33734868 intron variant G/C snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs9606615
rs9606615
IL17RA
1 1.000 0.040 22 17099923 intron variant T/C snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs9607715
rs9607715
SGSM3
1 1.000 0.040 22 40399790 intron variant G/A snv 3.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs977706
rs977706 		2 1.000 0.040 17 13456118 intergenic variant A/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs1133076
rs1133076
TG
2 0.925 0.080 8 133113438 missense variant G/A snv 0.48 0.56 0.010 1.000 1 2010 2010
dbSNP: rs121434257
rs121434257
AIRE
6 0.827 0.080 21 44289686 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2001 2001