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rs786204583

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204583(C;T)
Make rs786204583(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position179559711
GeneNPHS2
is asnp
is mentioned by
dbSNPrs786204583
dbSNP (classic)rs786204583
ClinGenrs786204583
ebirs786204583
HLIrs786204583
Exacrs786204583
Gnomadrs786204583
Varsomers786204583
LitVarrs786204583
Maprs786204583
PheGenIrs786204583
Biobankrs786204583
1000 genomesrs786204583
hgdprs786204583
ensemblrs786204583
geneviewrs786204583
scholarrs786204583
googlers786204583
pharmgkbrs786204583
gwascentralrs786204583
openSNPrs786204583
23andMers786204583
SNPshotrs786204583
SNPdbers786204583
MSV3drs786204583
GWAS Ctlgrs786204583
Max Magnitude0
ClinVar
Risk rs786204583(T;T)
Alt rs786204583(T;T)
Reference Rs786204583(C;C)
Significance Probable-Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NPHS2
CLNDBN Nephrotic syndrome, idiopathic, steroid-resistant
Reversed 1
HGVS NC_000001.10:g.179528846G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000169326.1,