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rs483353129

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs483353129(A;A)
Make rs483353129(A;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position114399537
GeneTBX5
is asnp
is mentioned by
dbSNPrs483353129
dbSNP (classic)rs483353129
ClinGenrs483353129
ebirs483353129
HLIrs483353129
Exacrs483353129
Gnomadrs483353129
Varsomers483353129
LitVarrs483353129
Maprs483353129
PheGenIrs483353129
Biobankrs483353129
1000 genomesrs483353129
hgdprs483353129
ensemblrs483353129
geneviewrs483353129
scholarrs483353129
googlers483353129
pharmgkbrs483353129
gwascentralrs483353129
openSNPrs483353129
23andMers483353129
SNPshotrs483353129
SNPdbers483353129
MSV3drs483353129
GWAS Ctlgrs483353129
Max Magnitude0
ClinVar
Risk rs483353129(A;A) rs483353129(T;T)
Alt rs483353129(A;A) rs483353129(T;T)
Reference Rs483353129(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene TBX5
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.114837342C>T
CLNSRC ClinVar
CLNACC RCV000128532.1,