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rs121909285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 4
Make rs121909285(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position51913187
GeneACVRL1
is asnp
is mentioned by
dbSNPrs121909285
ebirs121909285
HLIrs121909285
Exacrs121909285
Varsomers121909285
Maprs121909285
PheGenIrs121909285
hapmaprs121909285
1000 genomesrs121909285
hgdprs121909285
ensemblrs121909285
gopubmedrs121909285
geneviewrs121909285
scholarrs121909285
googlers121909285
pharmgkbrs121909285
gwascentralrs121909285
openSNPrs121909285
23andMers121909285
23andMe allrs121909285
SNP Nexus

SNPshotrs121909285
SNPdbers121909285
MSV3drs121909285
GWAS Ctlgrs121909285
Max Magnitude4
OMIM601284
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909285(T;T)
Alt rs121909285(T;T)
Reference rs121909285(G;G)
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.52306971G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008730.2,