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rs863223409

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863223409(A;A)
Make rs863223409(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position51913189
GeneACVRL1
is asnp
is mentioned by
dbSNPrs863223409
dbSNP (classic)rs863223409
ClinGenrs863223409
ebirs863223409
HLIrs863223409
Exacrs863223409
Gnomadrs863223409
Varsomers863223409
LitVarrs863223409
Maprs863223409
PheGenIrs863223409
Biobankrs863223409
1000 genomesrs863223409
hgdprs863223409
ensemblrs863223409
geneviewrs863223409
scholarrs863223409
googlers863223409
pharmgkbrs863223409
gwascentralrs863223409
openSNPrs863223409
23andMers863223409
SNPshotrs863223409
SNPdbers863223409
MSV3drs863223409
GWAS Ctlgrs863223409
Max Magnitude0
ClinVar
Risk rs863223409(A;A)
Alt rs863223409(A;A)
Reference Rs863223409(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene ACVRL1
CLNDBN not provided
Reversed 0
HGVS NC_000012.11:g.52306973G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000200161.1,