NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1215288938
rs1215288938
1.000 0.040 2 110144533 stop gained A/C;G snv 4.0E-06
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure
Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs547352656
rs547352656
1.000 0.040 2 110131733 stop gained G/A snv 8.0E-06 2.1E-05
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure
Nervous System Diseases 0.010 1.000 1 2000 2000