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rs267608685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267608685(A;T)
Make rs267608685(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position106463593
GenePOLR3B
is asnp
is mentioned by
dbSNPrs267608685
ebirs267608685
HLIrs267608685
Exacrs267608685
Varsomers267608685
Maprs267608685
PheGenIrs267608685
hapmaprs267608685
1000 genomesrs267608685
hgdprs267608685
ensemblrs267608685
gopubmedrs267608685
geneviewrs267608685
scholarrs267608685
googlers267608685
pharmgkbrs267608685
gwascentralrs267608685
openSNPrs267608685
23andMers267608685
23andMe allrs267608685
SNP Nexus

SNPshotrs267608685
SNPdbers267608685
MSV3drs267608685
GWAS Ctlgrs267608685
Max Magnitude0
ClinVar
Risk rs267608685(T;T)
Alt rs267608685(T;T)
Reference rs267608685(A;A)
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.106857371A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032281.4,