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rs267608674

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608674(G;T)
Make rs267608674(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position77991125
GenePOLR3A
is asnp
is mentioned by
dbSNPrs267608674
ebirs267608674
HLIrs267608674
Exacrs267608674
Varsomers267608674
Maprs267608674
PheGenIrs267608674
hapmaprs267608674
1000 genomesrs267608674
hgdprs267608674
ensemblrs267608674
gopubmedrs267608674
geneviewrs267608674
scholarrs267608674
googlers267608674
pharmgkbrs267608674
gwascentralrs267608674
openSNPrs267608674
23andMers267608674
23andMe allrs267608674
SNP Nexus

SNPshotrs267608674
SNPdbers267608674
MSV3drs267608674
GWAS Ctlgrs267608674
Max Magnitude0
ClinVar
Risk rs267608674(A,T;A,T)
Alt rs267608674(A,T;A,T)
Reference rs267608674(G;G)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 7
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7
Reversed 1
HGVS NC_000010.10:g.79750883C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034145.2,