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rs786204729

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204729(A;A)
Make rs786204729(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position35831372
GeneNPHS1
is asnp
is mentioned by
dbSNPrs786204729
dbSNP (classic)rs786204729
ClinGenrs786204729
ebirs786204729
HLIrs786204729
Exacrs786204729
Gnomadrs786204729
Varsomers786204729
LitVarrs786204729
Maprs786204729
PheGenIrs786204729
Biobankrs786204729
1000 genomesrs786204729
hgdprs786204729
ensemblrs786204729
geneviewrs786204729
scholarrs786204729
googlers786204729
pharmgkbrs786204729
gwascentralrs786204729
openSNPrs786204729
23andMers786204729
SNPshotrs786204729
SNPdbers786204729
MSV3drs786204729
GWAS Ctlgrs786204729
Max Magnitude0
ClinVar
Risk rs786204729(A;A)
Alt rs786204729(A;A)
Reference Rs786204729(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.36322274C>T
CLNSRC
CLNACC RCV000169569.1,