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rs398122980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122980(G;T)
Make rs398122980(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position40692223
GeneADCK4, NUMBL
is asnp
is mentioned by
dbSNPrs398122980
ebirs398122980
HLIrs398122980
Exacrs398122980
Varsomers398122980
Maprs398122980
PheGenIrs398122980
hapmaprs398122980
1000 genomesrs398122980
hgdprs398122980
ensemblrs398122980
gopubmedrs398122980
geneviewrs398122980
scholarrs398122980
googlers398122980
pharmgkbrs398122980
gwascentralrs398122980
openSNPrs398122980
23andMers398122980
23andMe allrs398122980
SNP Nexus

SNPshotrs398122980
SNPdbers398122980
MSV3drs398122980
GWAS Ctlgrs398122980
Max Magnitude0
ClinVar
Risk rs398122980(A,T;A,T)
Alt rs398122980(A,T;A,T)
Reference rs398122980(G;G)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NUMBL ADCK4
CLNDBN Nephrotic syndrome, type 9
Reversed 1
HGVS NC_000019.9:g.41198128C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000077755.3,