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rs267608669

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs267608669(-;-)
Make rs267608669(-;ACC)
Make rs267608669(ACC;ACC)
ReferenceGRCh38 38.1/141
Chromosome10
Position77982170
GenePOLR3A
is asnp
is mentioned by
dbSNPrs267608669
ebirs267608669
HLIrs267608669
Exacrs267608669
Varsomers267608669
Maprs267608669
PheGenIrs267608669
hapmaprs267608669
1000 genomesrs267608669
hgdprs267608669
ensemblrs267608669
gopubmedrs267608669
geneviewrs267608669
scholarrs267608669
googlers267608669
pharmgkbrs267608669
gwascentralrs267608669
openSNPrs267608669
23andMers267608669
23andMe allrs267608669
SNP Nexus

SNPshotrs267608669
SNPdbers267608669
MSV3drs267608669
GWAS Ctlgrs267608669
Max Magnitude0
ClinVar
Risk rs267608669(ACC;ACC)
Alt rs267608669(ACC;ACC)
Reference rs267608669(;)
Significance Pathogenic
Disease Hypomyelinating leukodystrophy 7
Variation info
Gene POLR3A
CLNDBN Hypomyelinating leukodystrophy 7
Reversed 1
HGVS NC_000010.10:g.79741928_79741929insGGT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034147.2,