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rs863223415

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863223415(-;G)
Make rs863223415(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position51913182
GeneACVRL1
is asnp
is mentioned by
dbSNPrs863223415
dbSNP (classic)rs863223415
ClinGenrs863223415
ebirs863223415
HLIrs863223415
Exacrs863223415
Gnomadrs863223415
Varsomers863223415
LitVarrs863223415
Maprs863223415
PheGenIrs863223415
Biobankrs863223415
1000 genomesrs863223415
hgdprs863223415
ensemblrs863223415
geneviewrs863223415
scholarrs863223415
googlers863223415
pharmgkbrs863223415
gwascentralrs863223415
openSNPrs863223415
23andMers863223415
SNPshotrs863223415
SNPdbers863223415
MSV3drs863223415
GWAS Ctlgrs863223415
Max Magnitude0
ClinVar
Risk rs863223415(G;G)
Alt rs863223415(G;G)
Reference Rs863223415(-;-)
Significance Pathogenic
Disease not provided Hereditary hemorrhagic telangiectasia type 2
Variation info
Gene ACVRL1
CLNDBN not provided Hereditary hemorrhagic telangiectasia type 2
Reversed 0
HGVS NC_000012.11:g.52306966dupG
CLNSRC
CLNACC RCV000195435.2, RCV000459586.1,