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rs80338912

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338912(C;T)
Make rs80338912(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position50836165
GeneTFAP2B
is asnp
is mentioned by
dbSNPrs80338912
ebirs80338912
HLIrs80338912
Exacrs80338912
Varsomers80338912
Maprs80338912
PheGenIrs80338912
hapmaprs80338912
1000 genomesrs80338912
hgdprs80338912
ensemblrs80338912
gopubmedrs80338912
geneviewrs80338912
scholarrs80338912
googlers80338912
pharmgkbrs80338912
gwascentralrs80338912
openSNPrs80338912
23andMers80338912
23andMe allrs80338912
SNP Nexus

SNPshotrs80338912
SNPdbers80338912
MSV3drs80338912
GWAS Ctlgrs80338912
Max Magnitude0
OMIM601601
Desc
Variant0003
Relatedalso
OMIM601601
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80338912(A,T;A,T)
Alt rs80338912(A,T;A,T)
Reference rs80338912(C;C)
Significance Pathogenic
Disease Char syndrome
Variation info
Gene TFAP2B
CLNDBN Char syndrome
Reversed 0
HGVS NC_000006.11:g.50803878C>A; NC_000006.11:g.50803878C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008508.4, RCV000008507.3,


[PMID 11505339OA-icon.png] Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.

[PMID 11505339OA-icon.png] Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.