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rs201129153

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201129153(C;T)
Make rs201129153(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position218441257
GeneTGFB2, TGFB2-OT1
is asnp
is mentioned by
dbSNPrs201129153
dbSNP (old)rs201129153
ClinGenrs201129153
ebirs201129153
HLIrs201129153
Exacrs201129153
Gnomadrs201129153
Varsomers201129153
Maprs201129153
PheGenIrs201129153
Biobankrs201129153
1000 genomesrs201129153
hgdprs201129153
ensemblrs201129153
gopubmedrs201129153
geneviewrs201129153
scholarrs201129153
googlers201129153
pharmgkbrs201129153
gwascentralrs201129153
openSNPrs201129153
23andMers201129153
23andMe allrs201129153
SNPshotrs201129153
SNPdbers201129153
MSV3drs201129153
GWAS Ctlgrs201129153
Max Magnitude0
ClinVar
Risk rs201129153(G;G) rs201129153(T;T)
Alt rs201129153(G;G) rs201129153(T;T)
Reference Rs201129153(C;C)
Significance Probable-Pathogenic
Disease not provided Holt-Oram syndrome
Variation info
Gene TGFB2-OT1 TGFB2
CLNDBN not provided Holt-Oram syndrome
Reversed 0
HGVS NC_000001.10:g.218614599C>G; NC_000001.10:g.218614599C>T
CLNSRC
CLNACC RCV000441929.1, RCV000459106.1,