Have questions? Visit https://www.reddit.com/r/SNPedia

rs74315343

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315343(C;T)
Make rs74315343(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position179561328
GeneNPHS2
is asnp
is mentioned by
dbSNPrs74315343
dbSNP (classic)rs74315343
ClinGenrs74315343
ebirs74315343
HLIrs74315343
Exacrs74315343
Gnomadrs74315343
Varsomers74315343
LitVarrs74315343
Maprs74315343
PheGenIrs74315343
Biobankrs74315343
1000 genomesrs74315343
hgdprs74315343
ensemblrs74315343
geneviewrs74315343
scholarrs74315343
googlers74315343
pharmgkbrs74315343
gwascentralrs74315343
openSNPrs74315343
23andMers74315343
SNPshotrs74315343
SNPdbers74315343
MSV3drs74315343
GWAS Ctlgrs74315343
Max Magnitude0
OMIM604766
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315343(T;T)
Alt rs74315343(T;T)
Reference Rs74315343(C;C)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NPHS2
CLNDBN Nephrotic syndrome, idiopathic, steroid-resistant
Reversed 1
HGVS NC_000001.10:g.179530463G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005692.2,