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rs267608688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608688(C;T)
Make rs267608688(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position106433739
GenePOLR3B
is asnp
is mentioned by
dbSNPrs267608688
ebirs267608688
HLIrs267608688
Exacrs267608688
Varsomers267608688
Maprs267608688
PheGenIrs267608688
hapmaprs267608688
1000 genomesrs267608688
hgdprs267608688
ensemblrs267608688
gopubmedrs267608688
geneviewrs267608688
scholarrs267608688
googlers267608688
pharmgkbrs267608688
gwascentralrs267608688
openSNPrs267608688
23andMers267608688
23andMe allrs267608688
SNP Nexus

SNPshotrs267608688
SNPdbers267608688
MSV3drs267608688
GWAS Ctlgrs267608688
Max Magnitude0
ClinVar
Risk rs267608688(T;T)
Alt rs267608688(T;T)
Reference rs267608688(C;C)
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.106827517C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024158.4,