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rs138656762

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs138656762(A;A)
Make rs138656762(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position35839418
GeneNPHS1
is asnp
is mentioned by
dbSNPrs138656762
dbSNP (classic)rs138656762
ClinGenrs138656762
ebirs138656762
HLIrs138656762
Exacrs138656762
Gnomadrs138656762
Varsomers138656762
LitVarrs138656762
Maprs138656762
PheGenIrs138656762
Biobankrs138656762
1000 genomesrs138656762
hgdprs138656762
ensemblrs138656762
geneviewrs138656762
scholarrs138656762
googlers138656762
pharmgkbrs138656762
gwascentralrs138656762
openSNPrs138656762
23andMers138656762
SNPshotrs138656762
SNPdbers138656762
MSV3drs138656762
GWAS Ctlgrs138656762
Max Magnitude0
ClinVar
Risk rs138656762(A;A)
Alt rs138656762(A;A)
Reference Rs138656762(C;C)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 0
HGVS NC_000019.9:g.36330320C>A
CLNSRC
CLNACC RCV000169078.1,