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rs793888540

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs793888540(A;A)
Make rs793888540(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position10404623
GeneTFAP2A
is asnp
is mentioned by
dbSNPrs793888540
dbSNP (classic)rs793888540
ClinGenrs793888540
ebirs793888540
HLIrs793888540
Exacrs793888540
Gnomadrs793888540
Varsomers793888540
LitVarrs793888540
Maprs793888540
PheGenIrs793888540
Biobankrs793888540
1000 genomesrs793888540
hgdprs793888540
ensemblrs793888540
geneviewrs793888540
scholarrs793888540
googlers793888540
pharmgkbrs793888540
gwascentralrs793888540
openSNPrs793888540
23andMers793888540
SNPshotrs793888540
SNPdbers793888540
MSV3drs793888540
GWAS Ctlgrs793888540
Max Magnitude0
ClinVar
Risk rs793888540(A;A)
Alt rs793888540(A;A)
Reference Rs793888540(C;C)
Significance Pathogenic
Disease Branchiooculofacial syndrome
Variation info
Gene TFAP2A
CLNDBN Branchiooculofacial syndrome
Reversed 1
HGVS NC_000006.11:g.10404856G>T
CLNSRC
CLNACC RCV000172980.1,