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rs1060503241

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060503241(-;-)
Make rs1060503241(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position51913227
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1060503241
dbSNP (old)rs1060503241
ClinGenrs1060503241
ebirs1060503241
HLIrs1060503241
Exacrs1060503241
Gnomadrs1060503241
Varsomers1060503241
LitVarrs1060503241
Maprs1060503241
PheGenIrs1060503241
Biobankrs1060503241
1000 genomesrs1060503241
hgdprs1060503241
ensemblrs1060503241
gopubmedrs1060503241
geneviewrs1060503241
scholarrs1060503241
googlers1060503241
pharmgkbrs1060503241
gwascentralrs1060503241
openSNPrs1060503241
23andMers1060503241
23andMe allrs1060503241
SNPshotrs1060503241
SNPdbers1060503241
MSV3drs1060503241
GWAS Ctlgrs1060503241
Max Magnitude0
ClinVar
Risk rs1060503241(-;-)
Alt rs1060503241(-;-)
Reference Rs1060503241(C;C)
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.52307011delC
CLNSRC
CLNACC RCV000458567.1,