Gene: NPHP1 ×
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: rs1215288938
rs1215288938
NPHP1
1 1.000 0.040 2 110144533 stop gained A/C;G snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs547352656
rs547352656
NPHP1
1 1.000 0.040 2 110131733 stop gained G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2000 2000