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

rs28939695

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28939695(A;A)
Make rs28939695(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848142
GeneNPHS1
is asnp
is mentioned by
dbSNPrs28939695
ebirs28939695
HLIrs28939695
Exacrs28939695
Varsomers28939695
Maprs28939695
PheGenIrs28939695
hapmaprs28939695
1000 genomesrs28939695
hgdprs28939695
ensemblrs28939695
gopubmedrs28939695
geneviewrs28939695
scholarrs28939695
googlers28939695
pharmgkbrs28939695
gwascentralrs28939695
openSNPrs28939695
23andMers28939695
23andMe allrs28939695
SNP Nexus

SNPshotrs28939695
SNPdbers28939695
MSV3drs28939695
GWAS Ctlgrs28939695
GMAF0.0101
Max Magnitude0
OMIM602716
DescNEPHROSIS 1, CONGENITAL, FINNISH TYPE
Variant0007
Relatedalso


ClinVar
Risk rs28939695(A;A)
Alt rs28939695(A;A)
Reference rs28939695(G;G)
Significance Pathogenic
Disease Finnish congenital nephrotic syndrome Proteinuria not specified
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome Proteinuria not specified
Reversed 1
HGVS NC_000019.9:g.36339044C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007275.2, RCV000157397.1, RCV000174106.1,



GET Evidence
NPHS1-E447K
aa_change Glu447Lys
aa_change_short E447K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0078125
summary