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rs137852922

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852922(C;T)
Make rs137852922(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position5887436
GeneNPHP4
is asnp
is mentioned by
dbSNPrs137852922
ebirs137852922
HLIrs137852922
Exacrs137852922
Varsomers137852922
Maprs137852922
PheGenIrs137852922
hapmaprs137852922
1000 genomesrs137852922
hgdprs137852922
ensemblrs137852922
gopubmedrs137852922
geneviewrs137852922
scholarrs137852922
googlers137852922
pharmgkbrs137852922
gwascentralrs137852922
openSNPrs137852922
23andMers137852922
23andMe allrs137852922
SNP Nexus

SNPshotrs137852922
SNPdbers137852922
MSV3drs137852922
GWAS Ctlgrs137852922
Max Magnitude0
OMIM607215
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852922(T;T)
Alt rs137852922(T;T)
Reference rs137852922(C;C)
Significance Pathogenic
Disease Senior-Loken syndrome 4 Nephronophthisis
Variation info
Gene NPHP4
CLNDBN Senior-Loken syndrome 4 Nephronophthisis
Reversed 1
HGVS NC_000001.10:g.5947496G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003573.2, RCV000234814.1,