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rs398122978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122978(C;T)
Make rs398122978(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position40705140
GeneCOQ8B
is asnp
is mentioned by
dbSNPrs398122978
dbSNP (old)rs398122978
ClinGenrs398122978
ebirs398122978
HLIrs398122978
Exacrs398122978
Gnomadrs398122978
Varsomers398122978
Maprs398122978
PheGenIrs398122978
Biobankrs398122978
1000 genomesrs398122978
hgdprs398122978
ensemblrs398122978
gopubmedrs398122978
geneviewrs398122978
scholarrs398122978
googlers398122978
pharmgkbrs398122978
gwascentralrs398122978
openSNPrs398122978
23andMers398122978
23andMe allrs398122978
SNP Nexus

SNPshotrs398122978
SNPdbers398122978
MSV3drs398122978
GWAS Ctlgrs398122978
Max Magnitude0
ClinVar
Risk rs398122978(T;T)
Alt rs398122978(T;T)
Reference Rs398122978(C;C)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene COQ8B ADCK4
CLNDBN Nephrotic syndrome, type 9
Reversed 1
HGVS NC_000019.9:g.41211045G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000077753.3,