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rs138048445

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138048445(A;A)
Make rs138048445(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position51914495
GeneACVRL1
is asnp
is mentioned by
dbSNPrs138048445
dbSNP (classic)rs138048445
ClinGenrs138048445
ebirs138048445
HLIrs138048445
Exacrs138048445
Gnomadrs138048445
Varsomers138048445
LitVarrs138048445
Maprs138048445
PheGenIrs138048445
Biobankrs138048445
1000 genomesrs138048445
hgdprs138048445
ensemblrs138048445
geneviewrs138048445
scholarrs138048445
googlers138048445
pharmgkbrs138048445
gwascentralrs138048445
openSNPrs138048445
23andMers138048445
SNPshotrs138048445
SNPdbers138048445
MSV3drs138048445
GWAS Ctlgrs138048445
Max Magnitude0
ClinVar
Risk rs138048445(A;A)
Alt rs138048445(A;A)
Reference Rs138048445(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene ACVRL1
CLNDBN not provided
Reversed 0
HGVS NC_000012.11:g.52308279G>A
CLNSRC
CLNACC RCV000198425.2,