Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852920

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852920(C;T)
Make rs137852920(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position5904716
GeneNPHP4
is asnp
is mentioned by
dbSNPrs137852920
ebirs137852920
HLIrs137852920
Exacrs137852920
Varsomers137852920
Maprs137852920
PheGenIrs137852920
hapmaprs137852920
1000 genomesrs137852920
hgdprs137852920
ensemblrs137852920
gopubmedrs137852920
geneviewrs137852920
scholarrs137852920
googlers137852920
pharmgkbrs137852920
gwascentralrs137852920
openSNPrs137852920
23andMers137852920
23andMe allrs137852920
SNP Nexus

SNPshotrs137852920
SNPdbers137852920
MSV3drs137852920
GWAS Ctlgrs137852920
Max Magnitude0
OMIM607215
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852920(T;T)
Alt rs137852920(T;T)
Reference rs137852920(C;C)
Significance Pathogenic
Disease Nephronophthisis 4 Cerebello-oculo-renal syndrome (nephronophthisis Infertility
Variation info
Gene NPHP4
CLNDBN Nephronophthisis 4 Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) Infertility
Reversed 1
HGVS NC_000001.10:g.5964776G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003570.2, RCV000162133.1,