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rs267608684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267608684(-;-)
Make rs267608684(-;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position106432386
GenePOLR3B
is asnp
is mentioned by
dbSNPrs267608684
ebirs267608684
HLIrs267608684
Exacrs267608684
Varsomers267608684
Maprs267608684
PheGenIrs267608684
hapmaprs267608684
1000 genomesrs267608684
hgdprs267608684
ensemblrs267608684
gopubmedrs267608684
geneviewrs267608684
scholarrs267608684
googlers267608684
pharmgkbrs267608684
gwascentralrs267608684
openSNPrs267608684
23andMers267608684
23andMe allrs267608684
SNP Nexus

SNPshotrs267608684
SNPdbers267608684
MSV3drs267608684
GWAS Ctlgrs267608684
Max Magnitude0
ClinVar
Risk rs267608684(;)
Alt rs267608684(;)
Reference rs267608684(T;T)
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.106826164delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000024161.3,