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rs1060503235

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503235(A;A)
Make rs1060503235(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position51916204
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1060503235
dbSNP (old)rs1060503235
ClinGenrs1060503235
ebirs1060503235
HLIrs1060503235
Exacrs1060503235
Gnomadrs1060503235
Varsomers1060503235
Maprs1060503235
PheGenIrs1060503235
Biobankrs1060503235
1000 genomesrs1060503235
hgdprs1060503235
ensemblrs1060503235
gopubmedrs1060503235
geneviewrs1060503235
scholarrs1060503235
googlers1060503235
pharmgkbrs1060503235
gwascentralrs1060503235
openSNPrs1060503235
23andMers1060503235
23andMe allrs1060503235
SNPshotrs1060503235
SNPdbers1060503235
MSV3drs1060503235
GWAS Ctlgrs1060503235
Max Magnitude0
ClinVar
Risk rs1060503235(A;A)
Alt rs1060503235(A;A)
Reference Rs1060503235(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.52309988G>A
CLNSRC
CLNACC RCV000475631.1,