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rs267608676

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608676(A;A)
Make rs267608676(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position78009539
GenePOLR3A
is asnp
is mentioned by
dbSNPrs267608676
ebirs267608676
HLIrs267608676
Exacrs267608676
Varsomers267608676
Maprs267608676
PheGenIrs267608676
hapmaprs267608676
1000 genomesrs267608676
hgdprs267608676
ensemblrs267608676
gopubmedrs267608676
geneviewrs267608676
scholarrs267608676
googlers267608676
pharmgkbrs267608676
gwascentralrs267608676
openSNPrs267608676
23andMers267608676
23andMe allrs267608676
SNP Nexus

SNPshotrs267608676
SNPdbers267608676
MSV3drs267608676
GWAS Ctlgrs267608676
Max Magnitude0
ClinVar
Risk rs267608676(A;A)
Alt rs267608676(A;A)
Reference rs267608676(C;C)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 7
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7
Reversed 1
HGVS NC_000010.10:g.79769297G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034142.2,