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rs373369949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs373369949(A;A)
Make rs373369949(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position5874542
GeneNPHP4
is asnp
is mentioned by
dbSNPrs373369949
dbSNP (classic)rs373369949
ClinGenrs373369949
ebirs373369949
HLIrs373369949
Exacrs373369949
Gnomadrs373369949
Varsomers373369949
LitVarrs373369949
Maprs373369949
PheGenIrs373369949
Biobankrs373369949
1000 genomesrs373369949
hgdprs373369949
ensemblrs373369949
geneviewrs373369949
scholarrs373369949
googlers373369949
pharmgkbrs373369949
gwascentralrs373369949
openSNPrs373369949
23andMers373369949
SNPshotrs373369949
SNPdbers373369949
MSV3drs373369949
GWAS Ctlgrs373369949
Max Magnitude0
ClinVar
Risk rs373369949(A;A) rs373369949(T;T)
Alt rs373369949(A;A) rs373369949(T;T)
Reference Rs373369949(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene NPHP4
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.5934602G>A
CLNSRC
CLNACC RCV000171147.1,