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rs137852919

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852919(C;T)
Make rs137852919(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position5887394
GeneNPHP4
is asnp
is mentioned by
dbSNPrs137852919
ebirs137852919
HLIrs137852919
Exacrs137852919
Varsomers137852919
Maprs137852919
PheGenIrs137852919
hapmaprs137852919
1000 genomesrs137852919
hgdprs137852919
ensemblrs137852919
gopubmedrs137852919
geneviewrs137852919
scholarrs137852919
googlers137852919
pharmgkbrs137852919
gwascentralrs137852919
openSNPrs137852919
23andMers137852919
23andMe allrs137852919
SNP Nexus

SNPshotrs137852919
SNPdbers137852919
MSV3drs137852919
GWAS Ctlgrs137852919
Max Magnitude0
OMIM607215
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852919(T;T)
Alt rs137852919(T;T)
Reference rs137852919(C;C)
Significance Pathogenic
Disease Nephronophthisis 4
Variation info
Gene NPHP4
CLNDBN Nephronophthisis 4
Reversed 1
HGVS NC_000001.10:g.5947454G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003569.2,