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rs1057517121

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517121(-;-)
Make rs1057517121(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35839518
GeneNPHS1
is asnp
is mentioned by
dbSNPrs1057517121
dbSNP (old)rs1057517121
ClinGenrs1057517121
ebirs1057517121
HLIrs1057517121
Exacrs1057517121
Gnomadrs1057517121
Varsomers1057517121
Maprs1057517121
PheGenIrs1057517121
Biobankrs1057517121
1000 genomesrs1057517121
hgdprs1057517121
ensemblrs1057517121
gopubmedrs1057517121
geneviewrs1057517121
scholarrs1057517121
googlers1057517121
pharmgkbrs1057517121
gwascentralrs1057517121
openSNPrs1057517121
23andMers1057517121
23andMe allrs1057517121
SNPshotrs1057517121
SNPdbers1057517121
MSV3drs1057517121
GWAS Ctlgrs1057517121
Max Magnitude0
ClinVar
Risk rs1057517121(-;-)
Alt rs1057517121(-;-)
Reference Rs1057517121(C;C)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36330420delG
CLNSRC
CLNACC RCV000409158.1,