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rs267608675

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608675(C;T)
Make rs267608675(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position77980159
GenePOLR3A
is asnp
is mentioned by
dbSNPrs267608675
ebirs267608675
HLIrs267608675
Exacrs267608675
Varsomers267608675
Maprs267608675
PheGenIrs267608675
hapmaprs267608675
1000 genomesrs267608675
hgdprs267608675
ensemblrs267608675
gopubmedrs267608675
geneviewrs267608675
scholarrs267608675
googlers267608675
pharmgkbrs267608675
gwascentralrs267608675
openSNPrs267608675
23andMers267608675
23andMe allrs267608675
SNP Nexus

SNPshotrs267608675
SNPdbers267608675
MSV3drs267608675
GWAS Ctlgrs267608675
Max Magnitude0
ClinVar
Risk rs267608675(T;T)
Alt rs267608675(T;T)
Reference rs267608675(C;C)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 7
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7
Reversed 1
HGVS NC_000010.10:g.79739917G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034149.2,