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rs74315345

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315345(G;T)
Make rs74315345(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position179575591
GeneNPHS2
is asnp
is mentioned by
dbSNPrs74315345
dbSNP (classic)rs74315345
ClinGenrs74315345
ebirs74315345
HLIrs74315345
Exacrs74315345
Gnomadrs74315345
Varsomers74315345
LitVarrs74315345
Maprs74315345
PheGenIrs74315345
Biobankrs74315345
1000 genomesrs74315345
hgdprs74315345
ensemblrs74315345
geneviewrs74315345
scholarrs74315345
googlers74315345
pharmgkbrs74315345
gwascentralrs74315345
openSNPrs74315345
23andMers74315345
SNPshotrs74315345
SNPdbers74315345
MSV3drs74315345
GWAS Ctlgrs74315345
Max Magnitude0
OMIM604766
Desc
Variant0007
Relatedalso
ClinVar
Risk rs74315345(T;T)
Alt rs74315345(T;T)
Reference Rs74315345(G;G)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NPHS2
CLNDBN Nephrotic syndrome, idiopathic, steroid-resistant
Reversed 1
HGVS NC_000001.10:g.179544726C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005697.2,