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rs587777841

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777841(C;G)
Make rs587777841(G;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position27623011
GenePOLR1D
is asnp
is mentioned by
dbSNPrs587777841
ebirs587777841
HLIrs587777841
Exacrs587777841
Varsomers587777841
Maprs587777841
PheGenIrs587777841
hapmaprs587777841
1000 genomesrs587777841
hgdprs587777841
ensemblrs587777841
gopubmedrs587777841
geneviewrs587777841
scholarrs587777841
googlers587777841
pharmgkbrs587777841
gwascentralrs587777841
openSNPrs587777841
23andMers587777841
23andMe allrs587777841
SNP Nexus

SNPshotrs587777841
SNPdbers587777841
MSV3drs587777841
GWAS Ctlgrs587777841
Max Magnitude0
ClinVar
Risk rs587777841(G;G)
Alt rs587777841(G;G)
Reference rs587777841(C;C)
Significance Pathogenic
Disease Treacher collins syndrome 2
Variation info
Gene POLR1D
CLNDBN Treacher collins syndrome 2
Reversed 0
HGVS NC_000013.10:g.28197148C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000144520.3,