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rs151344530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs151344530(C;C)
Make rs151344530(C;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position10404511
GeneTFAP2A
is asnp
is mentioned by
dbSNPrs151344530
ebirs151344530
HLIrs151344530
Exacrs151344530
Varsomers151344530
Maprs151344530
PheGenIrs151344530
hapmaprs151344530
1000 genomesrs151344530
hgdprs151344530
ensemblrs151344530
gopubmedrs151344530
geneviewrs151344530
scholarrs151344530
googlers151344530
pharmgkbrs151344530
gwascentralrs151344530
openSNPrs151344530
23andMers151344530
23andMe allrs151344530
SNP Nexus

SNPshotrs151344530
SNPdbers151344530
MSV3drs151344530
GWAS Ctlgrs151344530
Max Magnitude0
ClinVar
Risk rs151344530(C;C)
Alt rs151344530(C;C)
Reference rs151344530(G;G)
Significance Pathogenic
Disease Branchiooculofacial syndrome
Variation info
Gene TFAP2A
CLNDBN Branchiooculofacial syndrome
Reversed 1
HGVS NC_000006.11:g.10404744C>G
CLNSRC
CLNACC