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: rs765263671
rs765263671
NPHP1
1 1.000 0.080 2 110161686 stop gained G/A snv 2.0E-05 0.700 1.000 1 2008 2008
dbSNP: rs766524637
rs766524637
NPHP1
2 0.925 0.080 2 110168521 frameshift variant T/-;TT delins 2.1E-05 0.700 1.000 1 2006 2006
dbSNP: rs121907898
rs121907898
NPHP1
2 0.925 0.080 2 110201484 stop gained A/C;T snv 4.0E-06 0.700 0
dbSNP: rs121907899
rs121907899
NPHP1
2 0.925 0.080 2 110163048 missense variant C/A;T snv 4.0E-06; 1.2E-04 0.700 0
dbSNP: rs747861275
rs747861275
NPHP1
2 0.925 0.080 2 110146752 splice donor variant C/- del 8.0E-06 0.700 0