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rs1057517275

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517275(-;-)
Make rs1057517275(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position35850377
GeneKIRREL2, NPHS1
is asnp
is mentioned by
dbSNPrs1057517275
dbSNP (classic)rs1057517275
ClinGenrs1057517275
ebirs1057517275
HLIrs1057517275
Exacrs1057517275
Gnomadrs1057517275
Varsomers1057517275
LitVarrs1057517275
Maprs1057517275
PheGenIrs1057517275
Biobankrs1057517275
1000 genomesrs1057517275
hgdprs1057517275
ensemblrs1057517275
geneviewrs1057517275
scholarrs1057517275
googlers1057517275
pharmgkbrs1057517275
gwascentralrs1057517275
openSNPrs1057517275
23andMers1057517275
SNPshotrs1057517275
SNPdbers1057517275
MSV3drs1057517275
GWAS Ctlgrs1057517275
Max Magnitude0
ClinVar
Risk rs1057517275(-;-)
Alt rs1057517275(-;-)
Reference Rs1057517275(G;G)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36341279delC
CLNSRC
CLNACC RCV000408986.1,