Have questions? Visit https://www.reddit.com/r/SNPedia

rs875989814

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs875989814(-;-)
Make rs875989814(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position86040483
GenePOLR1A
is asnp
is mentioned by
dbSNPrs875989814
ebirs875989814
HLIrs875989814
Exacrs875989814
Varsomers875989814
Maprs875989814
PheGenIrs875989814
hapmaprs875989814
1000 genomesrs875989814
hgdprs875989814
ensemblrs875989814
gopubmedrs875989814
geneviewrs875989814
scholarrs875989814
googlers875989814
pharmgkbrs875989814
gwascentralrs875989814
openSNPrs875989814
23andMers875989814
23andMe allrs875989814
SNP Nexus

SNPshotrs875989814
SNPdbers875989814
MSV3drs875989814
GWAS Ctlgrs875989814
Max Magnitude0
ClinVar
Risk rs875989814(;)
Alt rs875989814(;)
Reference rs875989814(C;C)
Significance Pathogenic
Disease Acrofacial dysostosis
Variation info
Gene POLR1A
CLNDBN Acrofacial dysostosis, Cincinnati type
Reversed 1
HGVS NC_000002.11:g.86267606delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000185619.2,