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rs267608681

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267608681(A;A)
Make rs267608681(A;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position77993294
GenePOLR3A
is asnp
is mentioned by
dbSNPrs267608681
ebirs267608681
HLIrs267608681
Exacrs267608681
Varsomers267608681
Maprs267608681
PheGenIrs267608681
hapmaprs267608681
1000 genomesrs267608681
hgdprs267608681
ensemblrs267608681
gopubmedrs267608681
geneviewrs267608681
scholarrs267608681
googlers267608681
pharmgkbrs267608681
gwascentralrs267608681
openSNPrs267608681
23andMers267608681
23andMe allrs267608681
SNP Nexus

SNPshotrs267608681
SNPdbers267608681
MSV3drs267608681
GWAS Ctlgrs267608681
Max Magnitude0
ClinVar
Risk rs267608681(A;A)
Alt rs267608681(A;A)
Reference rs267608681(T;T)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 7
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7
Reversed 1
HGVS NC_000010.10:g.79753052A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024144.3,