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rs1060503237

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503237(A;A)
Make rs1060503237(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position51920758
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1060503237
dbSNP (old)rs1060503237
ClinGenrs1060503237
ebirs1060503237
HLIrs1060503237
Exacrs1060503237
Gnomadrs1060503237
Varsomers1060503237
Maprs1060503237
PheGenIrs1060503237
Biobankrs1060503237
1000 genomesrs1060503237
hgdprs1060503237
ensemblrs1060503237
gopubmedrs1060503237
geneviewrs1060503237
scholarrs1060503237
googlers1060503237
pharmgkbrs1060503237
gwascentralrs1060503237
openSNPrs1060503237
23andMers1060503237
23andMe allrs1060503237
SNPshotrs1060503237
SNPdbers1060503237
MSV3drs1060503237
GWAS Ctlgrs1060503237
Max Magnitude0
ClinVar
Risk rs1060503237(A;A)
Alt rs1060503237(A;A)
Reference Rs1060503237(G;G)
Significance Probable-Pathogenic
Disease Hereditary hemorrhagic telangiectasia type 2
Variation info
Gene ACVRL1
CLNDBN Hereditary hemorrhagic telangiectasia type 2
Reversed 0
HGVS NC_000012.11:g.52314542G>A
CLNSRC
CLNACC RCV000471693.1,