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rs181087667

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs181087667(C;T)
Make rs181087667(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position77993368
GenePOLR3A
is asnp
is mentioned by
dbSNPrs181087667
ebirs181087667
HLIrs181087667
Exacrs181087667
Varsomers181087667
Maprs181087667
PheGenIrs181087667
hapmaprs181087667
1000 genomesrs181087667
hgdprs181087667
ensemblrs181087667
gopubmedrs181087667
geneviewrs181087667
scholarrs181087667
googlers181087667
pharmgkbrs181087667
gwascentralrs181087667
openSNPrs181087667
23andMers181087667
23andMe allrs181087667
SNP Nexus

SNPshotrs181087667
SNPdbers181087667
MSV3drs181087667
GWAS Ctlgrs181087667
GMAF0.0
Max Magnitude0
ClinVar
Risk rs181087667(T;T)
Alt rs181087667(T;T)
Reference rs181087667(C;C)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 7
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7
Reversed 0
HGVS NC_000010.10:g.79753126C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024142.3,