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rs387906394

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 4
Make rs387906394(-;-)
Make rs387906394(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position51916100
GeneACVRL1
is asnp
is mentioned by
dbSNPrs387906394
ebirs387906394
HLIrs387906394
Exacrs387906394
Varsomers387906394
Maprs387906394
PheGenIrs387906394
hapmaprs387906394
1000 genomesrs387906394
hgdprs387906394
ensemblrs387906394
gopubmedrs387906394
geneviewrs387906394
scholarrs387906394
googlers387906394
pharmgkbrs387906394
gwascentralrs387906394
openSNPrs387906394
23andMers387906394
23andMe allrs387906394
SNP Nexus

SNPshotrs387906394
SNPdbers387906394
MSV3drs387906394
GWAS Ctlgrs387906394
Max Magnitude4
ClinVar
Risk rs387906394(G;G)
Alt rs387906394(G;G)
Reference rs387906394(;)
Significance Pathogenic
Disease Telangiectasia
Variation info
Gene ACVRL1
CLNDBN Telangiectasia, hereditary hemorrhagic, type II
Reversed 0
HGVS NC_000012.11:g.52309884_52309885insG
CLNSRC OMIM Allelic Variant
CLNACC RCV000008745.3,