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: rs10137071
rs10137071
GCH1
2 0.925 0.040 14 54903622 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs138110
rs138110
SULT4A1
2 0.925 0.040 22 43863901 upstream gene variant A/G snv 0.45 0.010 1.000 1 2008 2008
dbSNP: rs149740908
rs149740908
CALR ; MIR6515
2 0.925 0.120 19 12940432 missense variant C/T snv 1.2E-03 3.4E-04 0.010 1.000 1 2010 2010
dbSNP: rs4470690
rs4470690 		2 0.925 0.040 4 187800358 intergenic variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs75583333
rs75583333 		2 0.925 0.040 5 160168028 intergenic variant C/A snv 8.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs79323383
rs79323383 		2 0.925 0.040 8 120839185 intergenic variant T/G snv 4.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs9347865
rs9347865
LOC107986667
2 0.925 0.040 6 164507108 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs981975
rs981975
RGS6
2 0.925 0.040 14 72119843 intron variant A/G snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs105633
rs105633
DELE1 ; PCDH12
3 0.882 0.040 5 141945684 synonymous variant T/C;G snv 0.98; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs11125080
rs11125080
ATP6V1E2
3 0.882 0.040 2 46505266 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs115777110
rs115777110
LOC107985255
3 0.882 0.040 1 208936211 intergenic variant T/C snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs12052005
rs12052005
CCDC102B
3 0.882 0.040 18 68832311 intron variant G/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs13001243
rs13001243 		3 0.882 0.040 2 234306004 regulatory region variant G/A snv 7.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs137928907
rs137928907
STX2
3 0.882 0.040 12 130827204 missense variant A/C snv 1.4E-02 1.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs138449918
rs138449918
SLC8A1-AS1
3 0.882 0.040 2 39936810 intron variant AT/-;ATAT delins 0.700 1.000 1 2017 2017
dbSNP: rs142754383
rs142754383
IPO8
3 0.882 0.040 12 30661250 missense variant T/C snv 3.0E-04 9.1E-04 0.700 1.000 1 2017 2017
dbSNP: rs146330533
rs146330533
ARHGEF10L
3 0.882 0.040 1 17669971 intron variant G/A snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs188839109
rs188839109
TSPAN32 ; C11orf21
3 0.882 0.040 11 2301859 start lost C/T snv 1.0E-02 9.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs201048567
rs201048567 		3 0.882 0.040 7 125615031 intergenic variant CA/- delins 1.0E-05 0.700 1.000 1 2017 2017
dbSNP: rs2067477
rs2067477
CHRM1 ; LOC105369333
3 0.882 0.080 11 62910834 synonymous variant G/T snv 0.11 8.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs221798
rs221798
GIGYF1
3 0.882 0.040 7 100689872 intron variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs2299682
rs2299682
PLCB4
3 0.882 0.040 20 9448697 intron variant A/G snv 9.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs2571521
rs2571521
LOC107987027
3 0.882 0.040 9 26133810 intergenic variant C/G snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs2997119
rs2997119 		3 0.882 0.040 13 55819766 intergenic variant A/G snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs34486957
rs34486957
CCDC175
3 0.882 0.040 14 59578879 upstream gene variant C/T snv 0.24 0.700 1.000 1 2017 2017