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rs1060503240

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs1060503240(-;-)
Make rs1060503240(-;TG)
Make rs1060503240(TG;TG)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position51914071
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1060503240
dbSNP (old)rs1060503240
ClinGenrs1060503240
ebirs1060503240
HLIrs1060503240
Exacrs1060503240
Gnomadrs1060503240
Varsomers1060503240
Maprs1060503240
PheGenIrs1060503240
Biobankrs1060503240
1000 genomesrs1060503240
hgdprs1060503240
ensemblrs1060503240
gopubmedrs1060503240
geneviewrs1060503240
scholarrs1060503240
googlers1060503240
pharmgkbrs1060503240
gwascentralrs1060503240
openSNPrs1060503240
23andMers1060503240
23andMe allrs1060503240
SNPshotrs1060503240
SNPdbers1060503240
MSV3drs1060503240
GWAS Ctlgrs1060503240
Max Magnitude0
ClinVar
Risk rs1060503240(-;-)
Alt rs1060503240(-;-)
Reference Rs1060503240(GT;GT)
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.52307855_52307856delTG
CLNSRC
CLNACC RCV000470739.1,