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rs398122979

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122979(A;G)
Make rs398122979(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position40702636
GeneCOQ8B
is asnp
is mentioned by
dbSNPrs398122979
dbSNP (classic)rs398122979
ClinGenrs398122979
ebirs398122979
HLIrs398122979
Exacrs398122979
Gnomadrs398122979
Varsomers398122979
LitVarrs398122979
Maprs398122979
PheGenIrs398122979
Biobankrs398122979
1000 genomesrs398122979
hgdprs398122979
ensemblrs398122979
geneviewrs398122979
scholarrs398122979
googlers398122979
pharmgkbrs398122979
gwascentralrs398122979
openSNPrs398122979
23andMers398122979
SNPshotrs398122979
SNPdbers398122979
MSV3drs398122979
GWAS Ctlgrs398122979
Max Magnitude0
ClinVar
Risk rs398122979(G;G)
Alt rs398122979(G;G)
Reference Rs398122979(A;A)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene COQ8B ADCK4
CLNDBN Nephrotic syndrome, type 9
Reversed 1
HGVS NC_000019.9:g.41208541T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000077754.4,