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rs28936399

From SNPedia

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


Make rs28936399(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position51916114
GeneACVRL1
is asnp
is mentioned by
dbSNPrs28936399
ebirs28936399
HLIrs28936399
Exacrs28936399
Varsomers28936399
Maprs28936399
PheGenIrs28936399
hapmaprs28936399
1000 genomesrs28936399
hgdprs28936399
ensemblrs28936399
gopubmedrs28936399
geneviewrs28936399
scholarrs28936399
googlers28936399
pharmgkbrs28936399
gwascentralrs28936399
openSNPrs28936399
23andMers28936399
23andMe allrs28936399
SNP Nexus

SNPshotrs28936399
SNPdbers28936399
MSV3drs28936399
GWAS Ctlgrs28936399
Max Magnitude4
OMIM601284
DescTELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
Variant0002
Relatedalso
Neighborrs28936401
Distance7
Neighborrs28936400
Distance66


ClinVar
Risk rs28936399(G;G)
Alt rs28936399(G;G)
Reference rs28936399(T;T)
Significance Pathogenic
Disease Hereditary hemorrhagic telangiectasia type 2
Variation info
Gene ACVRL1
CLNDBN Hereditary hemorrhagic telangiectasia type 2
Reversed 0
HGVS NC_000012.11:g.52309898T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008728.2,