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rs267608679

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608679(A;A)
Make rs267608679(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position78004792
GenePOLR3A
is asnp
is mentioned by
dbSNPrs267608679
ebirs267608679
HLIrs267608679
Exacrs267608679
Varsomers267608679
Maprs267608679
PheGenIrs267608679
hapmaprs267608679
1000 genomesrs267608679
hgdprs267608679
ensemblrs267608679
gopubmedrs267608679
geneviewrs267608679
scholarrs267608679
googlers267608679
pharmgkbrs267608679
gwascentralrs267608679
openSNPrs267608679
23andMers267608679
23andMe allrs267608679
SNP Nexus

SNPshotrs267608679
SNPdbers267608679
MSV3drs267608679
GWAS Ctlgrs267608679
Max Magnitude0
ClinVar
Risk rs267608679(A;A)
Alt rs267608679(A;A)
Reference rs267608679(G;G)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 7
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7
Reversed 1
HGVS NC_000010.10:g.79764550C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034143.2,