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rs267606918

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606918(A;A)
Make rs267606918(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35842421
GeneNPHS1
is asnp
is mentioned by
dbSNPrs267606918
dbSNP (classic)rs267606918
ClinGenrs267606918
ebirs267606918
HLIrs267606918
Exacrs267606918
Gnomadrs267606918
Varsomers267606918
LitVarrs267606918
Maprs267606918
PheGenIrs267606918
Biobankrs267606918
1000 genomesrs267606918
hgdprs267606918
ensemblrs267606918
geneviewrs267606918
scholarrs267606918
googlers267606918
pharmgkbrs267606918
gwascentralrs267606918
openSNPrs267606918
23andMers267606918
SNPshotrs267606918
SNPdbers267606918
MSV3drs267606918
GWAS Ctlgrs267606918
Max Magnitude0
ClinVar
Risk rs267606918(A;A)
Alt rs267606918(A;A)
Reference Rs267606918(G;G)
Significance Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36333323C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007278.2,