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rs398122982

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs398122982(-;A)
Make rs398122982(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position40695998
GeneCOQ8B
is asnp
is mentioned by
dbSNPrs398122982
dbSNP (classic)rs398122982
ClinGenrs398122982
ebirs398122982
HLIrs398122982
Exacrs398122982
Gnomadrs398122982
Varsomers398122982
LitVarrs398122982
Maprs398122982
PheGenIrs398122982
Biobankrs398122982
1000 genomesrs398122982
hgdprs398122982
ensemblrs398122982
geneviewrs398122982
scholarrs398122982
googlers398122982
pharmgkbrs398122982
gwascentralrs398122982
openSNPrs398122982
23andMers398122982
SNPshotrs398122982
SNPdbers398122982
MSV3drs398122982
GWAS Ctlgrs398122982
Max Magnitude0
ClinVar
Risk rs398122982(A;A)
Alt rs398122982(A;A)
Reference Rs398122982(-;-)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene COQ8B ADCK4
CLNDBN Nephrotic syndrome, type 9
Reversed 1
HGVS NC_000019.9:g.41201904dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000077758.4,