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rs114896482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs114896482(A;A)
Make rs114896482(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position35842487
GeneNPHS1
is asnp
is mentioned by
dbSNPrs114896482
dbSNP (classic)rs114896482
ClinGenrs114896482
ebirs114896482
HLIrs114896482
Exacrs114896482
Gnomadrs114896482
Varsomers114896482
LitVarrs114896482
Maprs114896482
PheGenIrs114896482
Biobankrs114896482
1000 genomesrs114896482
hgdprs114896482
ensemblrs114896482
geneviewrs114896482
scholarrs114896482
googlers114896482
pharmgkbrs114896482
gwascentralrs114896482
openSNPrs114896482
23andMers114896482
SNPshotrs114896482
SNPdbers114896482
MSV3drs114896482
GWAS Ctlgrs114896482
Max Magnitude0
ClinVar
Risk rs114896482(A;A)
Alt rs114896482(A;A)
Reference Rs114896482(G;G)
Significance Probable-Pathogenic
Disease Hereditary nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Hereditary nephrotic syndrome
Reversed 0
HGVS NC_000019.9:g.36333389G>A
CLNSRC
CLNACC RCV000208010.1,