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rs267608686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267608686(A;C)
Make rs267608686(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position106437679
GenePOLR3B
is asnp
is mentioned by
dbSNPrs267608686
ebirs267608686
HLIrs267608686
Exacrs267608686
Varsomers267608686
Maprs267608686
PheGenIrs267608686
hapmaprs267608686
1000 genomesrs267608686
hgdprs267608686
ensemblrs267608686
gopubmedrs267608686
geneviewrs267608686
scholarrs267608686
googlers267608686
pharmgkbrs267608686
gwascentralrs267608686
openSNPrs267608686
23andMers267608686
23andMe allrs267608686
SNP Nexus

SNPshotrs267608686
SNPdbers267608686
MSV3drs267608686
GWAS Ctlgrs267608686
Max Magnitude0
ClinVar
Risk rs267608686(C;C)
Alt rs267608686(C;C)
Reference rs267608686(A;A)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 8
Variation info
Gene POLR3B
CLNDBN Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
Reversed 0
HGVS NC_000012.11:g.106831457A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024156.3,