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rs1057516776

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516776(A;A)
Make rs1057516776(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35848147
GeneNPHS1
is asnp
is mentioned by
dbSNPrs1057516776
dbSNP (old)rs1057516776
ClinGenrs1057516776
ebirs1057516776
HLIrs1057516776
Exacrs1057516776
Gnomadrs1057516776
Varsomers1057516776
LitVarrs1057516776
Maprs1057516776
PheGenIrs1057516776
Biobankrs1057516776
1000 genomesrs1057516776
hgdprs1057516776
ensemblrs1057516776
gopubmedrs1057516776
geneviewrs1057516776
scholarrs1057516776
googlers1057516776
pharmgkbrs1057516776
gwascentralrs1057516776
openSNPrs1057516776
23andMers1057516776
23andMe allrs1057516776
SNPshotrs1057516776
SNPdbers1057516776
MSV3drs1057516776
GWAS Ctlgrs1057516776
Max Magnitude0
ClinVar
Risk rs1057516776(A;A)
Alt rs1057516776(A;A)
Reference Rs1057516776(G;G)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36339049C>T
CLNSRC
CLNACC RCV000412259.1,