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rs139598219

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139598219(C;T)
Make rs139598219(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position35850407
GeneKIRREL2, NPHS1
is asnp
is mentioned by
dbSNPrs139598219
dbSNP (classic)rs139598219
ClinGenrs139598219
ebirs139598219
HLIrs139598219
Exacrs139598219
Gnomadrs139598219
Varsomers139598219
LitVarrs139598219
Maprs139598219
PheGenIrs139598219
Biobankrs139598219
1000 genomesrs139598219
hgdprs139598219
ensemblrs139598219
geneviewrs139598219
scholarrs139598219
googlers139598219
pharmgkbrs139598219
gwascentralrs139598219
openSNPrs139598219
23andMers139598219
SNPshotrs139598219
SNPdbers139598219
MSV3drs139598219
GWAS Ctlgrs139598219
Max Magnitude0
ClinVar
Risk rs139598219(A;A) rs139598219(T;T)
Alt rs139598219(A;A) rs139598219(T;T)
Reference Rs139598219(C;C)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1 KIRREL2
CLNDBN Finnish congenital nephrotic syndrome
Reversed 0
HGVS NC_000019.9:g.36341309C>A
CLNSRC
CLNACC RCV000169154.1,