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

rs387906393

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GAC) 4
(ACG;ACG) 0 common in clinvar
(GAC;GAC) 0 common in clinvar


Make rs387906393(-;-)
ReferenceGRCh38 38.1/141
Chromosome12
Position51914573
GeneACVRL1
is asnp
is mentioned by
dbSNPrs387906393
ebirs387906393
HLIrs387906393
Exacrs387906393
Varsomers387906393
Maprs387906393
PheGenIrs387906393
hapmaprs387906393
1000 genomesrs387906393
hgdprs387906393
ensemblrs387906393
gopubmedrs387906393
geneviewrs387906393
scholarrs387906393
googlers387906393
pharmgkbrs387906393
gwascentralrs387906393
openSNPrs387906393
23andMers387906393
23andMe allrs387906393
SNP Nexus

SNPshotrs387906393
SNPdbers387906393
MSV3drs387906393
GWAS Ctlgrs387906393
Max Magnitude4
ClinVar
Risk rs387906393(;)
Alt rs387906393(;)
Reference rs387906393(ACG;ACG)
Significance Pathogenic
Disease Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Variation info
Gene ACVRL1
CLNDBN Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Reversed 0
HGVS NC_000012.11:g.52308357_52308359delGAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000008735.3, RCV000008736.2,