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rs1060503249

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503249(-;-)
Make rs1060503249(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position51913771
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1060503249
dbSNP (old)rs1060503249
ClinGenrs1060503249
ebirs1060503249
HLIrs1060503249
Exacrs1060503249
Gnomadrs1060503249
Varsomers1060503249
Maprs1060503249
PheGenIrs1060503249
Biobankrs1060503249
1000 genomesrs1060503249
hgdprs1060503249
ensemblrs1060503249
gopubmedrs1060503249
geneviewrs1060503249
scholarrs1060503249
googlers1060503249
pharmgkbrs1060503249
gwascentralrs1060503249
openSNPrs1060503249
23andMers1060503249
23andMe allrs1060503249
SNPshotrs1060503249
SNPdbers1060503249
MSV3drs1060503249
GWAS Ctlgrs1060503249
Max Magnitude0
ClinVar
Risk rs1060503249(-;-)
Alt rs1060503249(-;-)
Reference Rs1060503249(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.52307555delG
CLNSRC
CLNACC RCV000476471.1,