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rs1057516747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516747(-;GGGCT)
Make rs1057516747(GGGCT;GGGCT)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position179575722
GeneNPHS2
is asnp
is mentioned by
dbSNPrs1057516747
dbSNP (classic)rs1057516747
ClinGenrs1057516747
ebirs1057516747
HLIrs1057516747
Exacrs1057516747
Gnomadrs1057516747
Varsomers1057516747
LitVarrs1057516747
Maprs1057516747
PheGenIrs1057516747
Biobankrs1057516747
1000 genomesrs1057516747
hgdprs1057516747
ensemblrs1057516747
geneviewrs1057516747
scholarrs1057516747
googlers1057516747
pharmgkbrs1057516747
gwascentralrs1057516747
openSNPrs1057516747
23andMers1057516747
23andMe allrs1057516747
SNPshotrs1057516747
SNPdbers1057516747
MSV3drs1057516747
GWAS Ctlgrs1057516747
Max Magnitude0
ClinVar
Risk rs1057516747(GGGCT;GGGCT)
Alt rs1057516747(GGGCT;GGGCT)
Reference Rs1057516747(-;-)
Significance Probable-Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NPHS2
CLNDBN Nephrotic syndrome, idiopathic, steroid-resistant
Reversed 1
HGVS NC_000001.10:g.179544858_179544862dupAGCCC
CLNSRC
CLNACC RCV000411511.1,