Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057519050

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519050(G;G)
Make rs1057519050(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position114398679
GeneTBX5
is asnp
is mentioned by
dbSNPrs1057519050
dbSNP (old)rs1057519050
ClinGenrs1057519050
ebirs1057519050
HLIrs1057519050
Exacrs1057519050
Gnomadrs1057519050
Varsomers1057519050
Maprs1057519050
PheGenIrs1057519050
Biobankrs1057519050
1000 genomesrs1057519050
hgdprs1057519050
ensemblrs1057519050
gopubmedrs1057519050
geneviewrs1057519050
scholarrs1057519050
googlers1057519050
pharmgkbrs1057519050
gwascentralrs1057519050
openSNPrs1057519050
23andMers1057519050
23andMe allrs1057519050
SNPshotrs1057519050
SNPdbers1057519050
MSV3drs1057519050
GWAS Ctlgrs1057519050
Max Magnitude0
ClinVar
Risk rs1057519050(G;G)
Alt rs1057519050(G;G)
Reference Rs1057519050(T;T)
Significance Probable-Pathogenic
Disease Atrioventricular septal defect
Variation info
Gene TBX5
CLNDBN Atrioventricular septal defect
Reversed 1
HGVS NC_000012.11:g.114836484A>C
CLNSRC
CLNACC RCV000416326.1,