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rs34248917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34248917(C;T)
Make rs34248917(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position5890953
GeneNPHP4
is asnp
is mentioned by
dbSNPrs34248917
ebirs34248917
HLIrs34248917
Exacrs34248917
Varsomers34248917
Maprs34248917
PheGenIrs34248917
hapmaprs34248917
1000 genomesrs34248917
hgdprs34248917
ensemblrs34248917
gopubmedrs34248917
geneviewrs34248917
scholarrs34248917
googlers34248917
pharmgkbrs34248917
gwascentralrs34248917
openSNPrs34248917
23andMers34248917
23andMe allrs34248917
SNP Nexus

SNPshotrs34248917
SNPdbers34248917
MSV3drs34248917
GWAS Ctlgrs34248917
GMAF0.006428
Max Magnitude0
Venter snp
Source plos
Gene NPHP4
allele T
frequency
sift TOLERATED
HuRef 1103675011669
Disease Association Defects in NPHP4 are the cause of Senior-Loken syndrome 4 (SLSN4) (MIM:606996). Senior-Loken syndrome (SLSN) (MIM:266900) is also known as juvenile nephronophthisis with Leber amaurosis. It is an autosomal recessive renal-retinal disorder, characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.



GET Evidence
NPHP4-R740H
aa_change Arg740His
aa_change_short R740H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0243438
summary



ClinVar
Risk rs34248917(A,T;A,T)
Alt rs34248917(A,T;A,T)
Reference rs34248917(C;C)
Significance Non-pathogenic
Disease Nephronophthisis
Variation info
Gene NPHP4
CLNDBN Nephronophthisis
Reversed 0
HGVS NC_000001.10:g.5951013C>T
CLNSRC
CLNACC RCV000233672.1,