Have questions? Visit https://www.reddit.com/r/SNPedia

rs1060503242

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503242(A;A)
Make rs1060503242(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position51916035
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1060503242
dbSNP (classic)rs1060503242
ClinGenrs1060503242
ebirs1060503242
HLIrs1060503242
Exacrs1060503242
Gnomadrs1060503242
Varsomers1060503242
LitVarrs1060503242
Maprs1060503242
PheGenIrs1060503242
Biobankrs1060503242
1000 genomesrs1060503242
hgdprs1060503242
ensemblrs1060503242
geneviewrs1060503242
scholarrs1060503242
googlers1060503242
pharmgkbrs1060503242
gwascentralrs1060503242
openSNPrs1060503242
23andMers1060503242
23andMe allrs1060503242
SNPshotrs1060503242
SNPdbers1060503242
MSV3drs1060503242
GWAS Ctlgrs1060503242
Max Magnitude0
ClinVar
Risk rs1060503242(A;A)
Alt rs1060503242(A;A)
Reference Rs1060503242(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.52309819G>A
CLNSRC
CLNACC RCV000457633.1,