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rs28936688

From SNPedia

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


Make rs28936688(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position51915483
GeneACVRL1
is asnp
is mentioned by
dbSNPrs28936688
ebirs28936688
HLIrs28936688
Exacrs28936688
Varsomers28936688
Maprs28936688
PheGenIrs28936688
hapmaprs28936688
1000 genomesrs28936688
hgdprs28936688
ensemblrs28936688
gopubmedrs28936688
geneviewrs28936688
scholarrs28936688
googlers28936688
pharmgkbrs28936688
gwascentralrs28936688
openSNPrs28936688
23andMers28936688
23andMe allrs28936688
SNP Nexus

SNPshotrs28936688
SNPdbers28936688
MSV3drs28936688
GWAS Ctlgrs28936688
Max Magnitude4
OMIM601284
DescTELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
Variant0012
Relatedalso
Neighborrs28936401
Distance624


ClinVar
Risk rs28936688(A;A)
Alt rs28936688(A;A)
Reference rs28936688(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.52309267G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008742.2, RCV000008743.3,