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rs1057516523

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516523(A;A)
Make rs1057516523(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position179552682
GeneAXDND1, NPHS2
is asnp
is mentioned by
dbSNPrs1057516523
dbSNP (classic)rs1057516523
ClinGenrs1057516523
ebirs1057516523
HLIrs1057516523
Exacrs1057516523
Gnomadrs1057516523
Varsomers1057516523
LitVarrs1057516523
Maprs1057516523
PheGenIrs1057516523
Biobankrs1057516523
1000 genomesrs1057516523
hgdprs1057516523
ensemblrs1057516523
geneviewrs1057516523
scholarrs1057516523
googlers1057516523
pharmgkbrs1057516523
gwascentralrs1057516523
openSNPrs1057516523
23andMers1057516523
SNPshotrs1057516523
SNPdbers1057516523
MSV3drs1057516523
GWAS Ctlgrs1057516523
Max Magnitude0
ClinVar
Risk rs1057516523(A;A)
Alt rs1057516523(A;A)
Reference Rs1057516523(G;G)
Significance Probable-Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NPHS2 AXDND1
CLNDBN Nephrotic syndrome, idiopathic, steroid-resistant
Reversed 1
HGVS NC_000001.10:g.179521817C>T
CLNSRC
CLNACC RCV000411601.1,