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rs878853415

From SNPedia

Orientationplus
Geno Mag Summary
(CTC;CTC) 0 common in clinvar
Make rs878853415(-;-)
Make rs878853415(-;CTC)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position51914509
GeneACVRL1
is asnp
is mentioned by
dbSNPrs878853415
ebirs878853415
HLIrs878853415
Exacrs878853415
Varsomers878853415
Maprs878853415
PheGenIrs878853415
hapmaprs878853415
1000 genomesrs878853415
hgdprs878853415
ensemblrs878853415
gopubmedrs878853415
geneviewrs878853415
scholarrs878853415
googlers878853415
pharmgkbrs878853415
gwascentralrs878853415
openSNPrs878853415
23andMers878853415
23andMe allrs878853415
SNP Nexus

SNPshotrs878853415
SNPdbers878853415
MSV3drs878853415
GWAS Ctlgrs878853415
Max Magnitude0
ClinVar
Risk rs878853415(;)
Alt rs878853415(;)
Reference rs878853415(CTC;CTC)
Significance Pathogenic
Disease Hereditary hemorrhagic telangiectasia type 2
Variation info
Gene ACVRL1
CLNDBN Hereditary hemorrhagic telangiectasia type 2
Reversed 0
HGVS NC_000012.11:g.52308293_52308295delCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000230219.2,