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rs61747728

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs61747728(C;T)
Make rs61747728(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position179557079
GeneNPHS2
is asnp
is mentioned by
dbSNPrs61747728
ebirs61747728
HLIrs61747728
Exacrs61747728
Varsomers61747728
Maprs61747728
PheGenIrs61747728
hapmaprs61747728
1000 genomesrs61747728
hgdprs61747728
ensemblrs61747728
gopubmedrs61747728
geneviewrs61747728
scholarrs61747728
googlers61747728
pharmgkbrs61747728
gwascentralrs61747728
openSNPrs61747728
23andMers61747728
23andMe allrs61747728
SNP Nexus

SNPshotrs61747728
SNPdbers61747728
MSV3drs61747728
GWAS Ctlgrs61747728
GMAF0.02158
Max Magnitude0
OMIM604766
Desc
Variant0011
Relatedalso
GET Evidence
NPHS2-R229Q
aa_change Arg229Gln
aa_change_short R229Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0267708
summary


ClinVar
Risk rs61747728(T;T)
Alt rs61747728(T;T)
Reference rs61747728(C;C)
Significance Other
Disease Nephrotic syndrome Proteinuria
Variation info
Gene NPHS2
CLNDBN Nephrotic syndrome, type 2, susceptibility to Proteinuria
Reversed 0
HGVS NC_000001.10:g.179526214C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005701.3, RCV000157404.2,