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rs1060503245

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060503245(-;-)
Make rs1060503245(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position51915341
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1060503245
dbSNP (old)rs1060503245
ClinGenrs1060503245
ebirs1060503245
HLIrs1060503245
Exacrs1060503245
Gnomadrs1060503245
Varsomers1060503245
Maprs1060503245
PheGenIrs1060503245
Biobankrs1060503245
1000 genomesrs1060503245
hgdprs1060503245
ensemblrs1060503245
gopubmedrs1060503245
geneviewrs1060503245
scholarrs1060503245
googlers1060503245
pharmgkbrs1060503245
gwascentralrs1060503245
openSNPrs1060503245
23andMers1060503245
23andMe allrs1060503245
SNPshotrs1060503245
SNPdbers1060503245
MSV3drs1060503245
GWAS Ctlgrs1060503245
Max Magnitude0
ClinVar
Risk rs1060503245(-;-)
Alt rs1060503245(-;-)
Reference Rs1060503245(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.52309125delC
CLNSRC
CLNACC RCV000459062.1,