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: rs119456962
rs119456962
NPHP3 ; NPHP3-ACAD11
1 1.000 0.160 3 132700348 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs182135982
rs182135982
NPHP3 ; NPHP3-ACAD11
4 0.851 0.240 3 132699988 stop gained C/A;T snv 8.0E-06; 5.2E-05 0.700 0
dbSNP: rs751527253
rs751527253
NPHP3 ; NPHP3-ACAD11
6 0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04 0.700 0
dbSNP: rs780020801
rs780020801
NPHP3 ; NPHP3-ACAD11
1 1.000 0.160 3 132683476 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs781180515
rs781180515
NPHP3 ; NPHP3-ACAD11
1 1.000 0.160 3 132692787 missense variant C/G;T snv 4.0E-06 4.9E-05 0.700 0