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rs137852918

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852918(G;T)
Make rs137852918(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position5887403
GeneNPHP4
is asnp
is mentioned by
dbSNPrs137852918
ebirs137852918
HLIrs137852918
Exacrs137852918
Varsomers137852918
Maprs137852918
PheGenIrs137852918
hapmaprs137852918
1000 genomesrs137852918
hgdprs137852918
ensemblrs137852918
gopubmedrs137852918
geneviewrs137852918
scholarrs137852918
googlers137852918
pharmgkbrs137852918
gwascentralrs137852918
openSNPrs137852918
23andMers137852918
23andMe allrs137852918
SNP Nexus

SNPshotrs137852918
SNPdbers137852918
MSV3drs137852918
GWAS Ctlgrs137852918
Max Magnitude0
OMIM607215
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852918(T;T)
Alt rs137852918(T;T)
Reference rs137852918(G;G)
Significance Pathogenic
Disease Nephronophthisis 4
Variation info
Gene NPHP4
CLNDBN Nephronophthisis 4
Reversed 1
HGVS NC_000001.10:g.5947463C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003568.2,