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rs141764916

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs141764916(A;A)
Make rs141764916(A;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position51916144
GeneACVRL1
is asnp
is mentioned by
dbSNPrs141764916
ebirs141764916
HLIrs141764916
Exacrs141764916
Varsomers141764916
Maprs141764916
PheGenIrs141764916
hapmaprs141764916
1000 genomesrs141764916
hgdprs141764916
ensemblrs141764916
gopubmedrs141764916
geneviewrs141764916
scholarrs141764916
googlers141764916
pharmgkbrs141764916
gwascentralrs141764916
openSNPrs141764916
23andMers141764916
23andMe allrs141764916
SNP Nexus

SNPshotrs141764916
SNPdbers141764916
MSV3drs141764916
GWAS Ctlgrs141764916
Max Magnitude0
ClinVar
Risk rs141764916(A;A)
Alt rs141764916(A;A)
Reference rs141764916(G;G)
Significance Probable-Pathogenic
Disease Haemorrhagic telangiectasia 2
Variation info
Gene ACVRL1
CLNDBN Haemorrhagic telangiectasia 2
Reversed 0
HGVS NC_000012.11:g.52309928G>A
CLNSRC ClinVar University of Washington
CLNACC RCV000148356.1,