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rs793888541

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs793888541(A;A)
Make rs793888541(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position10404631
GeneTFAP2A
is asnp
is mentioned by
dbSNPrs793888541
dbSNP (classic)rs793888541
ClinGenrs793888541
ebirs793888541
HLIrs793888541
Exacrs793888541
Gnomadrs793888541
Varsomers793888541
LitVarrs793888541
Maprs793888541
PheGenIrs793888541
Biobankrs793888541
1000 genomesrs793888541
hgdprs793888541
ensemblrs793888541
geneviewrs793888541
scholarrs793888541
googlers793888541
pharmgkbrs793888541
gwascentralrs793888541
openSNPrs793888541
23andMers793888541
SNPshotrs793888541
SNPdbers793888541
MSV3drs793888541
GWAS Ctlgrs793888541
Max Magnitude0
ClinVar
Risk rs793888541(A;A)
Alt rs793888541(A;A)
Reference Rs793888541(T;T)
Significance Pathogenic
Disease Branchiooculofacial syndrome
Variation info
Gene TFAP2A
CLNDBN Branchiooculofacial syndrome
Reversed 1
HGVS NC_000006.11:g.10404864A>T
CLNSRC
CLNACC RCV000172981.1,