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rs1085307086

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome6
Position43520297
GenePOLR1C
is asnp
is mentioned by
dbSNPrs1085307086
dbSNP (old)rs1085307086
ClinGenrs1085307086
ebirs1085307086
HLIrs1085307086
Exacrs1085307086
Gnomadrs1085307086
Varsomers1085307086
Maprs1085307086
PheGenIrs1085307086
Biobankrs1085307086
1000 genomesrs1085307086
hgdprs1085307086
ensemblrs1085307086
gopubmedrs1085307086
geneviewrs1085307086
scholarrs1085307086
googlers1085307086
pharmgkbrs1085307086
gwascentralrs1085307086
openSNPrs1085307086
23andMers1085307086
23andMe allrs1085307086
SNPshotrs1085307086
SNPdbers1085307086
MSV3drs1085307086
GWAS Ctlgrs1085307086
Max Magnitude0
ClinVar
Risk rs1085307086(-;-)
Alt rs1085307086(-;-)
Reference Rs1085307086(G;G)
Significance Probable-Pathogenic
Disease Mandibulofacial dysostosis
Variation info
Gene POLR1C
CLNDBN Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Reversed 0
HGVS NC_000006.11:g.43488035delG
CLNSRC
CLNACC RCV000490296.1,