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rs17472401

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs17472401(A;A)
Make rs17472401(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position5880183
GeneNPHP4
is asnp
is mentioned by
dbSNPrs17472401
ebirs17472401
HLIrs17472401
Exacrs17472401
Varsomers17472401
Maprs17472401
PheGenIrs17472401
hapmaprs17472401
1000 genomesrs17472401
hgdprs17472401
ensemblrs17472401
gopubmedrs17472401
geneviewrs17472401
scholarrs17472401
googlers17472401
pharmgkbrs17472401
gwascentralrs17472401
openSNPrs17472401
23andMers17472401
23andMe allrs17472401
SNP Nexus

SNPshotrs17472401
SNPdbers17472401
MSV3drs17472401
GWAS Ctlgrs17472401
GMAF0.01194
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene NPHP4
allele A
frequency 0.033
sift AFFECT FUNCTION
HuRef 1103675011651
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.



ClinVar
Risk rs17472401(A;A)
Alt rs17472401(A;A)
Reference rs17472401(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene NPHP4
CLNDBN not specified
Reversed 0
HGVS NC_000001.10:g.5940243G>A
CLNSRC HGMD
CLNACC RCV000081708.4,