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rs869312747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312747(C;T)
Make rs869312747(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position179552664
GeneAXDND1, NPHS2
is asnp
is mentioned by
dbSNPrs869312747
dbSNP (classic)rs869312747
ClinGenrs869312747
ebirs869312747
HLIrs869312747
Exacrs869312747
Gnomadrs869312747
Varsomers869312747
LitVarrs869312747
Maprs869312747
PheGenIrs869312747
Biobankrs869312747
1000 genomesrs869312747
hgdprs869312747
ensemblrs869312747
geneviewrs869312747
scholarrs869312747
googlers869312747
pharmgkbrs869312747
gwascentralrs869312747
openSNPrs869312747
23andMers869312747
SNPshotrs869312747
SNPdbers869312747
MSV3drs869312747
GWAS Ctlgrs869312747
Max Magnitude0
ClinVar
Risk rs869312747(T;T)
Alt rs869312747(T;T)
Reference Rs869312747(C;C)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NPHS2 AXDND1
CLNDBN Nephrotic syndrome, idiopathic, steroid-resistant
Reversed 1
HGVS NC_000001.10:g.179521799G>A
CLNSRC
CLNACC RCV000210051.1,