Gene: PRPF31 ×
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: rs869312187
rs869312187
PRPF31
1 19 54128351 stop gained C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1555792415
rs1555792415
PRPF31
1 19 54122531 frameshift variant A/- delins 0.700 0
dbSNP: rs868538598
rs868538598
PRPF31
2 1.000 0.080 19 54128187 stop gained C/T snv 0.700 0
dbSNP: rs878853331
rs878853331
PRPF31
1 19 54122573 frameshift variant G/- delins 0.700 0
dbSNP: rs878853334
rs878853334
PRPF31
1 19 54128121 stop gained C/T snv 0.700 0
dbSNP: rs878853335
rs878853335
PRPF31
1 19 54128094 stop gained G/T snv 0.700 0