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rs121909287

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4
Make rs121909287(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position51916218
GeneACVRL1
is asnp
is mentioned by
dbSNPrs121909287
ebirs121909287
HLIrs121909287
Exacrs121909287
Varsomers121909287
Maprs121909287
PheGenIrs121909287
hapmaprs121909287
1000 genomesrs121909287
hgdprs121909287
ensemblrs121909287
gopubmedrs121909287
geneviewrs121909287
scholarrs121909287
googlers121909287
pharmgkbrs121909287
gwascentralrs121909287
openSNPrs121909287
23andMers121909287
23andMe allrs121909287
SNP Nexus

SNPshotrs121909287
SNPdbers121909287
MSV3drs121909287
GWAS Ctlgrs121909287
Max Magnitude4
OMIM601284
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121909287(T;T)
Alt rs121909287(T;T)
Reference rs121909287(C;C)
Significance Pathogenic
Disease Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia not provided
Variation info
Gene ACVRL1
CLNDBN Hereditary hemorrhagic telangiectasia type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia not provided
Reversed 0
HGVS NC_000012.11:g.52310002C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008737.2, RCV000008738.2, RCV000199381.1,