Gene: NPHP3-AS1 ×
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: rs1560017690
rs1560017690
NPHP3 ; NPHP3-AS1 ; NPHP3-ACAD11
1 1.000 0.080 3 132719814 frameshift variant T/- del 0.700 0
dbSNP: rs773521620
rs773521620
NPHP3 ; NPHP3-AS1 ; NPHP3-ACAD11
1 1.000 0.080 3 132722296 stop gained G/A;C snv 7.0E-06 0.700 0