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rs794729674

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794729674(C;C)
Make rs794729674(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position86070107
GenePOLR1A
is asnp
is mentioned by
dbSNPrs794729674
ebirs794729674
HLIrs794729674
Exacrs794729674
Varsomers794729674
Maprs794729674
PheGenIrs794729674
hapmaprs794729674
1000 genomesrs794729674
hgdprs794729674
ensemblrs794729674
gopubmedrs794729674
geneviewrs794729674
scholarrs794729674
googlers794729674
pharmgkbrs794729674
gwascentralrs794729674
openSNPrs794729674
23andMers794729674
23andMe allrs794729674
SNP Nexus

SNPshotrs794729674
SNPdbers794729674
MSV3drs794729674
GWAS Ctlgrs794729674
Max Magnitude0
ClinVar
Risk rs794729674(C;C)
Alt rs794729674(C;C)
Reference rs794729674(G;G)
Significance Pathogenic
Disease Acrofacial dysostosis
Variation info
Gene POLR1A
CLNDBN Acrofacial dysostosis, Cincinnati type
Reversed 1
HGVS NC_000002.11:g.86297230C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000185618.3,