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rs1057517944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517944(C;T)
Make rs1057517944(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position51920816
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1057517944
dbSNP (old)rs1057517944
ClinGenrs1057517944
ebirs1057517944
HLIrs1057517944
Exacrs1057517944
Gnomadrs1057517944
Varsomers1057517944
LitVarrs1057517944
Maprs1057517944
PheGenIrs1057517944
Biobankrs1057517944
1000 genomesrs1057517944
hgdprs1057517944
ensemblrs1057517944
gopubmedrs1057517944
geneviewrs1057517944
scholarrs1057517944
googlers1057517944
pharmgkbrs1057517944
gwascentralrs1057517944
openSNPrs1057517944
23andMers1057517944
23andMe allrs1057517944
SNPshotrs1057517944
SNPdbers1057517944
MSV3drs1057517944
GWAS Ctlgrs1057517944
Max Magnitude0
ClinVar
Risk rs1057517944(T;T)
Alt rs1057517944(T;T)
Reference Rs1057517944(C;C)
Significance Pathogenic
Disease not provided Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Variation info
Gene ACVRL1
CLNDBN not provided Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Reversed 0
HGVS NC_000012.11:g.52314600C>T
CLNSRC
CLNACC RCV000414291.1, RCV000488776.1,