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rs121909575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909575(A;A)
Make rs121909575(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position10402590
GeneTFAP2A
is asnp
is mentioned by
dbSNPrs121909575
dbSNP (classic)rs121909575
ClinGenrs121909575
ebirs121909575
HLIrs121909575
Exacrs121909575
Gnomadrs121909575
Varsomers121909575
LitVarrs121909575
Maprs121909575
PheGenIrs121909575
Biobankrs121909575
1000 genomesrs121909575
hgdprs121909575
ensemblrs121909575
geneviewrs121909575
scholarrs121909575
googlers121909575
pharmgkbrs121909575
gwascentralrs121909575
openSNPrs121909575
23andMers121909575
SNPshotrs121909575
SNPdbers121909575
MSV3drs121909575
GWAS Ctlgrs121909575
Max Magnitude0
OMIM107580
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909575(A;A)
Alt rs121909575(A;A)
Reference Rs121909575(G;G)
Significance Pathogenic
Disease Branchiooculofacial syndrome
Variation info
Gene TFAP2A
CLNDBN Branchiooculofacial syndrome
Reversed 1
HGVS NC_000006.11:g.10402823C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019531.23,