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rs12568913

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs12568913(A;A)
Make rs12568913(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position179557179
GeneNPHS2
is asnp
is mentioned by
dbSNPrs12568913
dbSNP (classic)rs12568913
ClinGenrs12568913
ebirs12568913
HLIrs12568913
Exacrs12568913
Gnomadrs12568913
Varsomers12568913
LitVarrs12568913
Maprs12568913
PheGenIrs12568913
Biobankrs12568913
1000 genomesrs12568913
hgdprs12568913
ensemblrs12568913
geneviewrs12568913
scholarrs12568913
googlers12568913
pharmgkbrs12568913
gwascentralrs12568913
openSNPrs12568913
23andMers12568913
SNPshotrs12568913
SNPdbers12568913
MSV3drs12568913
GWAS Ctlgrs12568913
Max Magnitude0
? (A;A) (A;G) (G;G) 28


ClinVar
Risk rs12568913(A;A) rs12568913(C;C)
Alt rs12568913(A;A) rs12568913(C;C)
Reference Rs12568913(G;G)
Significance Probable-Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NPHS2
CLNDBN Nephrotic syndrome, idiopathic, steroid-resistant
Reversed 0
HGVS NC_000001.10:g.179526314G>A
CLNSRC Counsyl
CLNACC RCV000169250.1,