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rs387907020

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907020(A;T)
Make rs387907020(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position43521238
GenePOLR1C
is asnp
is mentioned by
dbSNPrs387907020
ebirs387907020
HLIrs387907020
Exacrs387907020
Varsomers387907020
Maprs387907020
PheGenIrs387907020
hapmaprs387907020
1000 genomesrs387907020
hgdprs387907020
ensemblrs387907020
gopubmedrs387907020
geneviewrs387907020
scholarrs387907020
googlers387907020
pharmgkbrs387907020
gwascentralrs387907020
openSNPrs387907020
23andMers387907020
23andMe allrs387907020
SNP Nexus

SNPshotrs387907020
SNPdbers387907020
MSV3drs387907020
GWAS Ctlgrs387907020
Max Magnitude0
ClinVar
Risk rs387907020(T;T)
Alt rs387907020(T;T)
Reference rs387907020(A;A)
Significance Pathogenic
Disease Mandibulofacial dysostosis
Variation info
Gene POLR1C
CLNDBN Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Reversed 0
HGVS NC_000006.11:g.43488976A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023798.3,