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rs1057516918

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516918(-;-)
Make rs1057516918(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35848112
GeneNPHS1
is asnp
is mentioned by
dbSNPrs1057516918
dbSNP (old)rs1057516918
ClinGenrs1057516918
ebirs1057516918
HLIrs1057516918
Exacrs1057516918
Gnomadrs1057516918
Varsomers1057516918
Maprs1057516918
PheGenIrs1057516918
Biobankrs1057516918
1000 genomesrs1057516918
hgdprs1057516918
ensemblrs1057516918
gopubmedrs1057516918
geneviewrs1057516918
scholarrs1057516918
googlers1057516918
pharmgkbrs1057516918
gwascentralrs1057516918
openSNPrs1057516918
23andMers1057516918
23andMe allrs1057516918
SNPshotrs1057516918
SNPdbers1057516918
MSV3drs1057516918
GWAS Ctlgrs1057516918
Max Magnitude0
ClinVar
Risk rs1057516918(-;-)
Alt rs1057516918(-;-)
Reference Rs1057516918(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.36339014delC
CLNSRC
CLNACC RCV000409779.1,