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rs387906392

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGCCT;GGGCC) 4
(GGGCC;GGGCC) 0 common in clinvar


Make rs387906392(AGCCT;AGCCT)
ReferenceGRCh38 38.1/141
Chromosome12
Position51913180
GeneACVRL1
is asnp
is mentioned by
dbSNPrs387906392
ebirs387906392
HLIrs387906392
Exacrs387906392
Varsomers387906392
Maprs387906392
PheGenIrs387906392
hapmaprs387906392
1000 genomesrs387906392
hgdprs387906392
ensemblrs387906392
gopubmedrs387906392
geneviewrs387906392
scholarrs387906392
googlers387906392
pharmgkbrs387906392
gwascentralrs387906392
openSNPrs387906392
23andMers387906392
23andMe allrs387906392
SNP Nexus

SNPshotrs387906392
SNPdbers387906392
MSV3drs387906392
GWAS Ctlgrs387906392
Max Magnitude4
ClinVar
Risk rs387906392(AGCCT;AGCCT)
Alt rs387906392(AGCCT;AGCCT)
Reference rs387906392(GGGCC;GGGCC)
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.52306964_52306968delGGGCCinsAGCCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000008731.2,