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rs755312623

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs755312623(C;T)
Make rs755312623(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position106444495
GenePOLR3B
is asnp
is mentioned by
dbSNPrs755312623
ebirs755312623
HLIrs755312623
Exacrs755312623
Varsomers755312623
Maprs755312623
PheGenIrs755312623
hapmaprs755312623
1000 genomesrs755312623
hgdprs755312623
ensemblrs755312623
gopubmedrs755312623
geneviewrs755312623
scholarrs755312623
googlers755312623
pharmgkbrs755312623
gwascentralrs755312623
openSNPrs755312623
23andMers755312623
23andMe allrs755312623
SNP Nexus

SNPshotrs755312623
SNPdbers755312623
MSV3drs755312623
GWAS Ctlgrs755312623
Max Magnitude0
ClinVar
Risk rs755312623(T;T)
Alt rs755312623(T;T)
Reference rs755312623(C;C)
Significance Probable-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.106838273C>T
CLNSRC
CLNACC RCV000199616.1,