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rs1060503246

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503246(-;-)
Make rs1060503246(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position51913220
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1060503246
dbSNP (old)rs1060503246
ClinGenrs1060503246
ebirs1060503246
HLIrs1060503246
Exacrs1060503246
Gnomadrs1060503246
Varsomers1060503246
Maprs1060503246
PheGenIrs1060503246
Biobankrs1060503246
1000 genomesrs1060503246
hgdprs1060503246
ensemblrs1060503246
gopubmedrs1060503246
geneviewrs1060503246
scholarrs1060503246
googlers1060503246
pharmgkbrs1060503246
gwascentralrs1060503246
openSNPrs1060503246
23andMers1060503246
23andMe allrs1060503246
SNPshotrs1060503246
SNPdbers1060503246
MSV3drs1060503246
GWAS Ctlgrs1060503246
Max Magnitude0
ClinVar
Risk rs1060503246(-;-)
Alt rs1060503246(-;-)
Reference Rs1060503246(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.52307004delG
CLNSRC
CLNACC RCV000466064.1,