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: rs9324593
rs9324593 		1 1.000 0.040 8 142605634 intergenic variant A/G snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs9411471
rs9411471 		2 1.000 0.040 9 133244704 intergenic variant G/A snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs975618
rs975618
EYS
1 1.000 0.040 6 65114686 intron variant G/A snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs9919007
rs9919007 		2 1.000 0.040 9 133244140 intergenic variant C/T snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs138377917
rs138377917
PSCA
5 0.827 0.160 8 142682113 stop gained G/A snv 2.1E-02 2.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs2976391
rs2976391
PSCA ; JRK
7 0.790 0.160 8 142681306 intron variant C/A;G snv 0.42; 2.5E-04 0.010 1.000 1 2019 2019
dbSNP: rs2976392
rs2976392
PSCA ; JRK
15 0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 0.010 1.000 1 2019 2019
dbSNP: rs9297976
rs9297976
PSCA ; JRK
7 0.790 0.160 8 142670817 intron variant T/C;G snv 0.010 1.000 1 2019 2019