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rs191582628

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs191582628(A;A)
Make rs191582628(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position43520962
GenePOLR1C
is asnp
is mentioned by
dbSNPrs191582628
ebirs191582628
HLIrs191582628
Exacrs191582628
Varsomers191582628
Maprs191582628
PheGenIrs191582628
hapmaprs191582628
1000 genomesrs191582628
hgdprs191582628
ensemblrs191582628
gopubmedrs191582628
geneviewrs191582628
scholarrs191582628
googlers191582628
pharmgkbrs191582628
gwascentralrs191582628
openSNPrs191582628
23andMers191582628
23andMe allrs191582628
SNP Nexus

SNPshotrs191582628
SNPdbers191582628
MSV3drs191582628
GWAS Ctlgrs191582628
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs191582628(A;A)
Alt rs191582628(A;A)
Reference rs191582628(G;G)
Significance Pathogenic
Disease Mandibulofacial dysostosis
Variation info
Gene POLR1C
CLNDBN Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Reversed 0
HGVS NC_000006.11:g.43488700G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023796.2,