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rs875989826

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
Make rs875989826(-;-)
Make rs875989826(-;AAG)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position43521009
GenePOLR1C
is asnp
is mentioned by
dbSNPrs875989826
dbSNP (classic)rs875989826
ClinGenrs875989826
ebirs875989826
HLIrs875989826
Exacrs875989826
Gnomadrs875989826
Varsomers875989826
LitVarrs875989826
Maprs875989826
PheGenIrs875989826
Biobankrs875989826
1000 genomesrs875989826
hgdprs875989826
ensemblrs875989826
geneviewrs875989826
scholarrs875989826
googlers875989826
pharmgkbrs875989826
gwascentralrs875989826
openSNPrs875989826
23andMers875989826
SNPshotrs875989826
SNPdbers875989826
MSV3drs875989826
GWAS Ctlgrs875989826
Max Magnitude0
ClinVar
Risk rs875989826(-;-)
Alt rs875989826(-;-)
Reference Rs875989826(AAG;AAG)
Significance Pathogenic
Disease Leukodystrophy not provided
Variation info
Gene POLR1C
CLNDBN Leukodystrophy, hypomyelinating, 11 not provided
Reversed 0
HGVS NC_000006.11:g.43488747_43488749delAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000186587.3, RCV000483343.1,