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rs387906391

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CCT) 4
(CCT;CCT) 0 common in clinvar
(CTC;CTC) 0 common in clinvar


Make rs387906391(-;-)
ReferenceGRCh38 38.1/141
Chromosome12
Position51914508
GeneACVRL1
is asnp
is mentioned by
dbSNPrs387906391
ebirs387906391
HLIrs387906391
Exacrs387906391
Varsomers387906391
Maprs387906391
PheGenIrs387906391
hapmaprs387906391
1000 genomesrs387906391
hgdprs387906391
ensemblrs387906391
gopubmedrs387906391
geneviewrs387906391
scholarrs387906391
googlers387906391
pharmgkbrs387906391
gwascentralrs387906391
openSNPrs387906391
23andMers387906391
23andMe allrs387906391
SNP Nexus

SNPshotrs387906391
SNPdbers387906391
MSV3drs387906391
GWAS Ctlgrs387906391
Max Magnitude4
ClinVar
Risk rs387906391(;)
Alt rs387906391(;)
Reference rs387906391(CTC;CTC)
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.52308293_52308295delCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000230219.2,