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rs74315348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315348(C;T)
Make rs74315348(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position179552605
GeneAXDND1, NPHS2
is asnp
is mentioned by
dbSNPrs74315348
dbSNP (classic)rs74315348
ClinGenrs74315348
ebirs74315348
HLIrs74315348
Exacrs74315348
Gnomadrs74315348
Varsomers74315348
LitVarrs74315348
Maprs74315348
PheGenIrs74315348
Biobankrs74315348
1000 genomesrs74315348
hgdprs74315348
ensemblrs74315348
geneviewrs74315348
scholarrs74315348
googlers74315348
pharmgkbrs74315348
gwascentralrs74315348
openSNPrs74315348
23andMers74315348
SNPshotrs74315348
SNPdbers74315348
MSV3drs74315348
GWAS Ctlgrs74315348
GMAF0.0004591
Max Magnitude0
OMIM604766
Desc
Variant0010
Relatedalso
ClinVar
Risk rs74315348(T;T)
Alt rs74315348(T;T)
Reference Rs74315348(C;C)
Significance Other
Disease Nephrotic syndrome
Variation info
Gene NPHS2 AXDND1
CLNDBN Nephrotic syndrome, idiopathic, steroid-resistant
Reversed 1
HGVS NC_000001.10:g.179521740G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005700.4,