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rs267608678

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608678(C;T)
Make rs267608678(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position78025043
GenePOLR3A
is asnp
is mentioned by
dbSNPrs267608678
ebirs267608678
HLIrs267608678
Exacrs267608678
Varsomers267608678
Maprs267608678
PheGenIrs267608678
hapmaprs267608678
1000 genomesrs267608678
hgdprs267608678
ensemblrs267608678
gopubmedrs267608678
geneviewrs267608678
scholarrs267608678
googlers267608678
pharmgkbrs267608678
gwascentralrs267608678
openSNPrs267608678
23andMers267608678
23andMe allrs267608678
SNP Nexus

SNPshotrs267608678
SNPdbers267608678
MSV3drs267608678
GWAS Ctlgrs267608678
Max Magnitude0
ClinVar
Risk rs267608678(T;T)
Alt rs267608678(T;T)
Reference rs267608678(C;C)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 7
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7
Reversed 1
HGVS NC_000010.10:g.79784801G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024143.4,