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rs137852923

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852923(C;T)
Make rs137852923(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position5904788
GeneNPHP4
is asnp
is mentioned by
dbSNPrs137852923
ebirs137852923
HLIrs137852923
Exacrs137852923
Varsomers137852923
Maprs137852923
PheGenIrs137852923
hapmaprs137852923
1000 genomesrs137852923
hgdprs137852923
ensemblrs137852923
gopubmedrs137852923
geneviewrs137852923
scholarrs137852923
googlers137852923
pharmgkbrs137852923
gwascentralrs137852923
openSNPrs137852923
23andMers137852923
23andMe allrs137852923
SNP Nexus

SNPshotrs137852923
SNPdbers137852923
MSV3drs137852923
GWAS Ctlgrs137852923
Max Magnitude0
OMIM607215
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852923(T;T)
Alt rs137852923(T;T)
Reference rs137852923(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.5964848G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003574.2, RCV000234826.1,