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rs1057516942

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516942(-;-)
Make rs1057516942(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35851557
GeneKIRREL2, NPHS1
is asnp
is mentioned by
dbSNPrs1057516942
dbSNP (classic)rs1057516942
ClinGenrs1057516942
ebirs1057516942
HLIrs1057516942
Exacrs1057516942
Gnomadrs1057516942
Varsomers1057516942
LitVarrs1057516942
Maprs1057516942
PheGenIrs1057516942
Biobankrs1057516942
1000 genomesrs1057516942
hgdprs1057516942
ensemblrs1057516942
geneviewrs1057516942
scholarrs1057516942
googlers1057516942
pharmgkbrs1057516942
gwascentralrs1057516942
openSNPrs1057516942
23andMers1057516942
23andMe allrs1057516942
SNPshotrs1057516942
SNPdbers1057516942
MSV3drs1057516942
GWAS Ctlgrs1057516942
Max Magnitude0
ClinVar
Risk rs1057516942(-;-)
Alt rs1057516942(-;-)
Reference Rs1057516942(T;T)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36342459delA
CLNSRC
CLNACC RCV000409163.1,