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rs794727053

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727053(-;-)
Make rs794727053(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position140017726
GeneTBXAS1
is asnp
is mentioned by
dbSNPrs794727053
dbSNP (classic)rs794727053
ClinGenrs794727053
ebirs794727053
HLIrs794727053
Exacrs794727053
Gnomadrs794727053
Varsomers794727053
LitVarrs794727053
Maprs794727053
PheGenIrs794727053
Biobankrs794727053
1000 genomesrs794727053
hgdprs794727053
ensemblrs794727053
geneviewrs794727053
scholarrs794727053
googlers794727053
pharmgkbrs794727053
gwascentralrs794727053
openSNPrs794727053
23andMers794727053
SNPshotrs794727053
SNPdbers794727053
MSV3drs794727053
GWAS Ctlgrs794727053
Max Magnitude0
ClinVar
Risk rs794727053(-;-)
Alt rs794727053(-;-)
Reference Rs794727053(G;G)
Significance Pathogenic
Disease Ghosal syndrome
Variation info
Gene TBXAS1
CLNDBN Ghosal syndrome
Reversed 0
HGVS NC_000007.13:g.139717526delG
CLNSRC
CLNACC RCV000174274.1,