Have questions? Visit https://www.reddit.com/r/SNPedia

rs267608683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608683(A;A)
Make rs267608683(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position106432361
GenePOLR3B
is asnp
is mentioned by
dbSNPrs267608683
ebirs267608683
HLIrs267608683
Exacrs267608683
Varsomers267608683
Maprs267608683
PheGenIrs267608683
hapmaprs267608683
1000 genomesrs267608683
hgdprs267608683
ensemblrs267608683
gopubmedrs267608683
geneviewrs267608683
scholarrs267608683
googlers267608683
pharmgkbrs267608683
gwascentralrs267608683
openSNPrs267608683
23andMers267608683
23andMe allrs267608683
SNP Nexus

SNPshotrs267608683
SNPdbers267608683
MSV3drs267608683
GWAS Ctlgrs267608683
Max Magnitude0
ClinVar
Risk rs267608683(A;A)
Alt rs267608683(A;A)
Reference rs267608683(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.106826139C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032279.4,