Gene: NPHP4 ×
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: rs137852919
rs137852919
NPHP4
2 0.925 0.080 1 5887394 stop gained G/A snv 0.700 1.000 2 2002 2005
dbSNP: rs137852922
rs137852922
NPHP4
2 0.925 0.160 1 5887436 stop gained G/A snv 0.700 1.000 1 2002 2002
dbSNP: rs137852923
rs137852923
NPHP4
3 0.882 0.160 1 5904788 stop gained G/A snv 8.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs1210874691
rs1210874691
NPHP4
1 1.000 0.080 1 5927733 stop gained C/A snv 2.1E-05 0.700 0
dbSNP: rs398124289
rs398124289
NPHP4
1 1.000 0.080 1 5874973 frameshift variant -/GAGCG delins 1.2E-05 0.700 0