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rs74315344

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315344(C;T)
Make rs74315344(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position179575806
GeneNPHS2
is asnp
is mentioned by
dbSNPrs74315344
ebirs74315344
HLIrs74315344
Exacrs74315344
Varsomers74315344
Maprs74315344
PheGenIrs74315344
hapmaprs74315344
1000 genomesrs74315344
hgdprs74315344
ensemblrs74315344
gopubmedrs74315344
geneviewrs74315344
scholarrs74315344
googlers74315344
pharmgkbrs74315344
gwascentralrs74315344
openSNPrs74315344
23andMers74315344
23andMe allrs74315344
SNP Nexus

SNPshotrs74315344
SNPdbers74315344
MSV3drs74315344
GWAS Ctlgrs74315344
GMAF0.001377
Max Magnitude0
OMIM604766
Desc
Variant0006
Relatedalso
ClinVar
Risk rs74315344(T;T)
Alt rs74315344(T;T)
Reference rs74315344(C;C)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NPHS2
CLNDBN Nephrotic syndrome, idiopathic, steroid-resistant
Reversed 1
HGVS NC_000001.10:g.179544941G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005696.2,