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rs267608671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267608671(A;G)
Make rs267608671(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position78000043
GenePOLR3A
is asnp
is mentioned by
dbSNPrs267608671
ebirs267608671
HLIrs267608671
Exacrs267608671
Varsomers267608671
Maprs267608671
PheGenIrs267608671
hapmaprs267608671
1000 genomesrs267608671
hgdprs267608671
ensemblrs267608671
gopubmedrs267608671
geneviewrs267608671
scholarrs267608671
googlers267608671
pharmgkbrs267608671
gwascentralrs267608671
openSNPrs267608671
23andMers267608671
23andMe allrs267608671
SNP Nexus

SNPshotrs267608671
SNPdbers267608671
MSV3drs267608671
GWAS Ctlgrs267608671
Max Magnitude0
ClinVar
Risk rs267608671(G;G)
Alt rs267608671(G;G)
Reference rs267608671(A;A)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 7
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7
Reversed 1
HGVS NC_000010.10:g.79759801T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024141.6, RCV000198773.1,