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rs151344531

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs151344531(C;T)
Make rs151344531(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position10402608
GeneTFAP2A
is asnp
is mentioned by
dbSNPrs151344531
dbSNP (classic)rs151344531
ClinGenrs151344531
ebirs151344531
HLIrs151344531
Exacrs151344531
Gnomadrs151344531
Varsomers151344531
LitVarrs151344531
Maprs151344531
PheGenIrs151344531
Biobankrs151344531
1000 genomesrs151344531
hgdprs151344531
ensemblrs151344531
geneviewrs151344531
scholarrs151344531
googlers151344531
pharmgkbrs151344531
gwascentralrs151344531
openSNPrs151344531
23andMers151344531
SNPshotrs151344531
SNPdbers151344531
MSV3drs151344531
GWAS Ctlgrs151344531
Max Magnitude0
ClinVar
Risk rs151344531(T;T)
Alt rs151344531(T;T)
Reference Rs151344531(C;C)
Significance Pathogenic
Disease Branchiooculofacial syndrome
Variation info
Gene TFAP2A
CLNDBN Branchiooculofacial syndrome
Reversed 1
HGVS NC_000006.11:g.10402841G>A
CLNSRC
CLNACC