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rs387906680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906680(G;T)
Make rs387906680(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position32841671
GenePSMB8
is asnp
is mentioned by
dbSNPrs387906680
ebirs387906680
HLIrs387906680
Exacrs387906680
Varsomers387906680
Maprs387906680
PheGenIrs387906680
hapmaprs387906680
1000 genomesrs387906680
hgdprs387906680
ensemblrs387906680
gopubmedrs387906680
geneviewrs387906680
scholarrs387906680
googlers387906680
pharmgkbrs387906680
gwascentralrs387906680
openSNPrs387906680
23andMers387906680
23andMe allrs387906680
SNP Nexus

SNPshotrs387906680
SNPdbers387906680
MSV3drs387906680
GWAS Ctlgrs387906680
Max Magnitude0
ClinVar
Risk rs387906680(A,T;A,T)
Alt rs387906680(A,T;A,T)
Reference rs387906680(G;G)
Significance Pathogenic
Disease Nakajo syndrome
Variation info
Gene PSMB8
CLNDBN Nakajo syndrome
Reversed 1
HGVS NC_000006.11:g.32809448C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022739.23,