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rs267608680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608680(A;A)
Make rs267608680(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position77980174
GenePOLR3A
is asnp
is mentioned by
dbSNPrs267608680
ebirs267608680
HLIrs267608680
Exacrs267608680
Varsomers267608680
Maprs267608680
PheGenIrs267608680
hapmaprs267608680
1000 genomesrs267608680
hgdprs267608680
ensemblrs267608680
gopubmedrs267608680
geneviewrs267608680
scholarrs267608680
googlers267608680
pharmgkbrs267608680
gwascentralrs267608680
openSNPrs267608680
23andMers267608680
23andMe allrs267608680
SNP Nexus

SNPshotrs267608680
SNPdbers267608680
MSV3drs267608680
GWAS Ctlgrs267608680
Max Magnitude0
ClinVar
Risk rs267608680(A;A)
Alt rs267608680(A;A)
Reference rs267608680(G;G)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 7
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7
Reversed 1
HGVS NC_000010.10:g.79739932C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034148.2,