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: rs7046863
rs7046863
1 1.000 0.040 9 133246054 downstream gene variant T/C snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs7775478
rs7775478
EYS
1 1.000 0.040 6 65151300 intron variant G/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs7855466
rs7855466
3 0.925 0.080 9 133245916 downstream gene variant C/T snv 0.23 0.700 1.000 1 2012 2012
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
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