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rs1057517054

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517054(C;C)
Make rs1057517054(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35851260
GeneKIRREL2, NPHS1
is asnp
is mentioned by
dbSNPrs1057517054
dbSNP (classic)rs1057517054
ClinGenrs1057517054
ebirs1057517054
HLIrs1057517054
Exacrs1057517054
Gnomadrs1057517054
Varsomers1057517054
LitVarrs1057517054
Maprs1057517054
PheGenIrs1057517054
Biobankrs1057517054
1000 genomesrs1057517054
hgdprs1057517054
ensemblrs1057517054
geneviewrs1057517054
scholarrs1057517054
googlers1057517054
pharmgkbrs1057517054
gwascentralrs1057517054
openSNPrs1057517054
23andMers1057517054
23andMe allrs1057517054
SNPshotrs1057517054
SNPdbers1057517054
MSV3drs1057517054
GWAS Ctlgrs1057517054
Max Magnitude0
ClinVar
Risk rs1057517054(C;C)
Alt rs1057517054(C;C)
Reference Rs1057517054(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.36342162A>G
CLNSRC
CLNACC RCV000410346.1,