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rs267608673

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608673(A;A)
Make rs267608673(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position78021617
GenePOLR3A
is asnp
is mentioned by
dbSNPrs267608673
ebirs267608673
HLIrs267608673
Exacrs267608673
Varsomers267608673
Maprs267608673
PheGenIrs267608673
hapmaprs267608673
1000 genomesrs267608673
hgdprs267608673
ensemblrs267608673
gopubmedrs267608673
geneviewrs267608673
scholarrs267608673
googlers267608673
pharmgkbrs267608673
gwascentralrs267608673
openSNPrs267608673
23andMers267608673
23andMe allrs267608673
SNP Nexus

SNPshotrs267608673
SNPdbers267608673
MSV3drs267608673
GWAS Ctlgrs267608673
Max Magnitude0
ClinVar
Risk rs267608673(A;A)
Alt rs267608673(A;A)
Reference rs267608673(G;G)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 7
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7
Reversed 1
HGVS NC_000010.10:g.79781375C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034140.2,