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rs199506378

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199506378(G;T)
Make rs199506378(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position179551435
GeneAXDND1, NPHS2
is asnp
is mentioned by
dbSNPrs199506378
dbSNP (classic)rs199506378
ClinGenrs199506378
ebirs199506378
HLIrs199506378
Exacrs199506378
Gnomadrs199506378
Varsomers199506378
LitVarrs199506378
Maprs199506378
PheGenIrs199506378
Biobankrs199506378
1000 genomesrs199506378
hgdprs199506378
ensemblrs199506378
geneviewrs199506378
scholarrs199506378
googlers199506378
pharmgkbrs199506378
gwascentralrs199506378
openSNPrs199506378
23andMers199506378
SNPshotrs199506378
SNPdbers199506378
MSV3drs199506378
GWAS Ctlgrs199506378
Max Magnitude0
ClinVar
Risk rs199506378(A;A) rs199506378(T;T)
Alt rs199506378(A;A) rs199506378(T;T)
Reference Rs199506378(G;G)
Significance Probable-Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NPHS2 AXDND1
CLNDBN Nephrotic syndrome, idiopathic, steroid-resistant
Reversed 0
HGVS NC_000001.10:g.179520570G>A
CLNSRC
CLNACC RCV000409446.1,