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rs1060503248

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503248(A;A)
Make rs1060503248(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position51916108
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1060503248
dbSNP (old)rs1060503248
ClinGenrs1060503248
ebirs1060503248
HLIrs1060503248
Exacrs1060503248
Gnomadrs1060503248
Varsomers1060503248
LitVarrs1060503248
Maprs1060503248
PheGenIrs1060503248
Biobankrs1060503248
1000 genomesrs1060503248
hgdprs1060503248
ensemblrs1060503248
gopubmedrs1060503248
geneviewrs1060503248
scholarrs1060503248
googlers1060503248
pharmgkbrs1060503248
gwascentralrs1060503248
openSNPrs1060503248
23andMers1060503248
23andMe allrs1060503248
SNPshotrs1060503248
SNPdbers1060503248
MSV3drs1060503248
GWAS Ctlgrs1060503248
Max Magnitude0
ClinVar
Risk rs1060503248(A;A)
Alt rs1060503248(A;A)
Reference Rs1060503248(G;G)
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.52309892G>A
CLNSRC
CLNACC RCV000467491.1, RCV000488746.1,