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rs144848597

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs144848597(A;A)
Make rs144848597(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position19765069
GeneTBX1
is asnp
is mentioned by
dbSNPrs144848597
dbSNP (old)rs144848597
ClinGenrs144848597
ebirs144848597
HLIrs144848597
Exacrs144848597
Gnomadrs144848597
Varsomers144848597
Maprs144848597
PheGenIrs144848597
Biobankrs144848597
1000 genomesrs144848597
hgdprs144848597
ensemblrs144848597
gopubmedrs144848597
geneviewrs144848597
scholarrs144848597
googlers144848597
pharmgkbrs144848597
gwascentralrs144848597
openSNPrs144848597
23andMers144848597
23andMe allrs144848597
SNPshotrs144848597
SNPdbers144848597
MSV3drs144848597
GWAS Ctlgrs144848597
Max Magnitude0
ClinVar
Risk rs144848597(A;A) rs144848597(C;C) rs144848597(T;T)
Alt rs144848597(A;A) rs144848597(C;C) rs144848597(T;T)
Reference Rs144848597(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene TBX1
CLNDBN not provided
Reversed 0
HGVS NC_000022.10:g.19752592G>T
CLNSRC
CLNACC RCV000486826.1,