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rs28936687

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4
(G;G) 0 common in clinvar


Make rs28936687(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position51914445
GeneACVRL1
is asnp
is mentioned by
dbSNPrs28936687
ebirs28936687
HLIrs28936687
Exacrs28936687
Varsomers28936687
Maprs28936687
PheGenIrs28936687
hapmaprs28936687
1000 genomesrs28936687
hgdprs28936687
ensemblrs28936687
gopubmedrs28936687
geneviewrs28936687
scholarrs28936687
googlers28936687
pharmgkbrs28936687
gwascentralrs28936687
openSNPrs28936687
23andMers28936687
23andMe allrs28936687
SNP Nexus

SNPshotrs28936687
SNPdbers28936687
MSV3drs28936687
GWAS Ctlgrs28936687
Max Magnitude4
OMIM601284
DescPULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
Variant0011
Relatedalso


ClinVar
Risk rs28936687(A;A)
Alt rs28936687(A;A)
Reference rs28936687(G;G)
Significance Pathogenic
Disease Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Variation info
Gene ACVRL1
CLNDBN Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Reversed 0
HGVS NC_000012.11:g.52308229G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008741.2,