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rs121909288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4
Make rs121909288(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position51920831
GeneACVRL1
is asnp
is mentioned by
dbSNPrs121909288
ebirs121909288
HLIrs121909288
Exacrs121909288
Varsomers121909288
Maprs121909288
PheGenIrs121909288
hapmaprs121909288
1000 genomesrs121909288
hgdprs121909288
ensemblrs121909288
gopubmedrs121909288
geneviewrs121909288
scholarrs121909288
googlers121909288
pharmgkbrs121909288
gwascentralrs121909288
openSNPrs121909288
23andMers121909288
23andMe allrs121909288
SNP Nexus

SNPshotrs121909288
SNPdbers121909288
MSV3drs121909288
GWAS Ctlgrs121909288
Max Magnitude4
OMIM601284
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121909288(T;T)
Alt rs121909288(T;T)
Reference rs121909288(C;C)
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.52314615C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008739.2, RCV000008740.2,