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: rs104894082
rs104894082
RP1
3 0.882 0.080 8 54625911 stop gained C/T snv 0.710 1.000 1 2001 2001
dbSNP: rs180729424
rs180729424
RP1
2 0.925 0.080 8 54621481 missense variant T/C;G snv 9.6E-05 0.700 1.000 9 1999 2012
dbSNP: rs186594858
rs186594858
RP1
1 1.000 0.080 8 54627990 missense variant A/G snv 2.4E-05 0.700 1.000 9 1999 2012
dbSNP: rs200135800
rs200135800
RP1
1 1.000 0.080 8 54626833 missense variant A/G snv 9.6E-05 2.1E-05 0.700 1.000 9 1999 2012
dbSNP: rs201725231
rs201725231
RP1
1 1.000 0.080 8 54625887 missense variant G/A snv 1.4E-04 1.3E-04 0.700 1.000 9 1999 2012
dbSNP: rs371969576
rs371969576
RP1
1 1.000 0.080 8 54629305 missense variant T/C snv 8.0E-06 1.4E-05 0.700 1.000 9 1999 2012
dbSNP: rs372551375
rs372551375
RP1
1 1.000 0.080 8 54625871 missense variant G/A;T snv 4.0E-06; 7.6E-05 0.700 1.000 9 1999 2012
dbSNP: rs760740229
rs760740229
RP1
1 1.000 0.080 8 54628837 missense variant G/A;T snv 8.0E-06; 1.6E-05 0.700 1.000 9 1999 2012
dbSNP: rs77775126
rs77775126
RP1
1 1.000 0.080 8 54625000 missense variant C/T snv 1.3E-02 1.0E-02 0.700 1.000 9 1999 2012
dbSNP: rs762951570
rs762951570
RP1
1 1.000 0.080 8 54628078 frameshift variant G/- del 0.700 1.000 1 1999 1999
dbSNP: rs104894083
rs104894083
RP1
1 1.000 0.080 8 54625917 stop gained C/T snv 0.700 0
dbSNP: rs1246397238
rs1246397238
RP1
1 1.000 0.080 8 54621331 frameshift variant -/GC delins 7.0E-06 0.700 0
dbSNP: rs1278053918
rs1278053918
RP1
1 1.000 0.080 8 54628984 frameshift variant ATAAG/- delins 0.700 0
dbSNP: rs137887415
rs137887415
RP1
1 1.000 0.080 8 54630220 missense variant C/A snv 2.4E-04 2.2E-04 0.700 0
dbSNP: rs1563329888
rs1563329888
RP1
2 1.000 0.080 8 54625333 stop gained C/A snv 0.700 0
dbSNP: rs1563330595
rs1563330595
RP1
1 1.000 0.080 8 54626217 frameshift variant T/- del 0.700 0
dbSNP: rs769601671
rs769601671
RP1
2 0.925 0.080 8 54627719 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs869320726
rs869320726
RP1
2 0.925 0.080 8 54626162 frameshift variant TAAAT/- delins 0.700 0
dbSNP: rs869320727
rs869320727
RP1
1 1.000 0.080 8 54626167 frameshift variant AATA/- delins 0.700 0
dbSNP: rs869320728
rs869320728
RP1
1 1.000 0.080 8 54625339 stop gained -/TGAA delins 0.700 0
dbSNP: rs886041040
rs886041040
RP1
1 1.000 0.080 8 54628618 frameshift variant -/A delins 0.700 0