Gene: RP1 ×
Source: CLINVAR ×
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: rs1563329888
rs1563329888
RP1
2 1.000 0.080 8 54625333 stop gained C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs765129639
rs765129639
RP1
1 8 54625380 frameshift variant AT/- del 1.6E-05 2.1E-05 0.700 0
dbSNP: rs769156393
rs769156393
RP1
1 8 54622243 stop gained C/T snv 0.700 0
dbSNP: rs878853326
rs878853326
RP1
1 8 54626631 stop gained C/T snv 0.700 0
dbSNP: rs878853327
rs878853327
RP1
1 8 54625344 frameshift variant G/- del 0.700 0
dbSNP: rs878853328
rs878853328
RP1
2 1.000 0.080 8 54625914 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs878853329
rs878853329
RP1
1 8 54625475 frameshift variant GAAA/- delins 0.700 0