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rs869312903

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312903(C;T)
Make rs869312903(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position218436119
GeneTGFB2
is asnp
is mentioned by
dbSNPrs869312903
ebirs869312903
HLIrs869312903
Exacrs869312903
Varsomers869312903
Maprs869312903
PheGenIrs869312903
hapmaprs869312903
1000 genomesrs869312903
hgdprs869312903
ensemblrs869312903
gopubmedrs869312903
geneviewrs869312903
scholarrs869312903
googlers869312903
pharmgkbrs869312903
gwascentralrs869312903
openSNPrs869312903
23andMers869312903
23andMe allrs869312903
SNP Nexus

SNPshotrs869312903
SNPdbers869312903
MSV3drs869312903
GWAS Ctlgrs869312903
Max Magnitude0
ClinVar
Risk rs869312903(A,T;A,T)
Alt rs869312903(A,T;A,T)
Reference rs869312903(C;C)
Significance Pathogenic
Disease Holt-Oram syndrome Loeys-Dietz syndrome 4
Variation info
Gene TGFB2
CLNDBN Holt-Oram syndrome Loeys-Dietz syndrome 4
Reversed 0
HGVS NC_000001.10:g.218609461C>A; NC_000001.10:g.218609461C>T
CLNSRC
CLNACC RCV000229032.1, RCV000210476.1,