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rs74315346

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315346(A;G)
Make rs74315346(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position179559734
GeneNPHS2
is asnp
is mentioned by
dbSNPrs74315346
dbSNP (classic)rs74315346
ClinGenrs74315346
ebirs74315346
HLIrs74315346
Exacrs74315346
Gnomadrs74315346
Varsomers74315346
LitVarrs74315346
Maprs74315346
PheGenIrs74315346
Biobankrs74315346
1000 genomesrs74315346
hgdprs74315346
ensemblrs74315346
geneviewrs74315346
scholarrs74315346
googlers74315346
pharmgkbrs74315346
gwascentralrs74315346
openSNPrs74315346
23andMers74315346
SNPshotrs74315346
SNPdbers74315346
MSV3drs74315346
GWAS Ctlgrs74315346
Max Magnitude0
OMIM604766
Desc
Variant0008
Relatedalso
ClinVar
Risk rs74315346(G;G)
Alt rs74315346(G;G)
Reference Rs74315346(A;A)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NPHS2
CLNDBN Nephrotic syndrome, idiopathic, steroid-resistant
Reversed 1
HGVS NC_000001.10:g.179528869T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005698.2,