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rs267608687

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608687(A;A)
Make rs267608687(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position106457147
GenePOLR3B
is asnp
is mentioned by
dbSNPrs267608687
ebirs267608687
HLIrs267608687
Exacrs267608687
Varsomers267608687
Maprs267608687
PheGenIrs267608687
hapmaprs267608687
1000 genomesrs267608687
hgdprs267608687
ensemblrs267608687
gopubmedrs267608687
geneviewrs267608687
scholarrs267608687
googlers267608687
pharmgkbrs267608687
gwascentralrs267608687
openSNPrs267608687
23andMers267608687
23andMe allrs267608687
SNP Nexus

SNPshotrs267608687
SNPdbers267608687
MSV3drs267608687
GWAS Ctlgrs267608687
Max Magnitude0
ClinVar
Risk rs267608687(A;A)
Alt rs267608687(A;A)
Reference rs267608687(G;G)
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.106850925G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024157.3,