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rs141156009

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs141156009(C;T)
Make rs141156009(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position43520961
GenePOLR1C
is asnp
is mentioned by
dbSNPrs141156009
ebirs141156009
HLIrs141156009
Exacrs141156009
Varsomers141156009
Maprs141156009
PheGenIrs141156009
hapmaprs141156009
1000 genomesrs141156009
hgdprs141156009
ensemblrs141156009
gopubmedrs141156009
geneviewrs141156009
scholarrs141156009
googlers141156009
pharmgkbrs141156009
gwascentralrs141156009
openSNPrs141156009
23andMers141156009
23andMe allrs141156009
SNP Nexus

SNPshotrs141156009
SNPdbers141156009
MSV3drs141156009
GWAS Ctlgrs141156009
Max Magnitude0
ClinVar
Risk rs141156009(T;T)
Alt rs141156009(T;T)
Reference rs141156009(C;C)
Significance Pathogenic
Disease Mandibulofacial dysostosis
Variation info
Gene POLR1C
CLNDBN Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Reversed 0
HGVS NC_000006.11:g.43488699C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023800.3,