rs80338912

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs80338912(C;T)

Make rs80338912(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

50836165

Gene

TFAP2B

is a	snp
is	mentioned by
dbSNP	rs80338912
dbSNP (classic)	rs80338912
ClinGen	rs80338912
ebi	rs80338912
HLI	rs80338912
Exac	rs80338912
Gnomad	rs80338912
Varsome	rs80338912
LitVar	rs80338912
Map	rs80338912
PheGenI	rs80338912
Biobank	rs80338912
1000 genomes	rs80338912
hgdp	rs80338912
ensembl	rs80338912
geneview	rs80338912
scholar	rs80338912
google	rs80338912
pharmgkb	rs80338912
gwascentral	rs80338912
openSNP	rs80338912
23andMe	rs80338912
SNPshot	rs80338912
SNPdbe	rs80338912
MSV3d	rs80338912
GWAS Ctlg	rs80338912

Max Magnitude

0

OMIM	601601
Desc
Variant	0003
Related	also

OMIM	601601
Desc
Variant	0004
Related	also

ClinVar
Risk	rs80338912(A;A) rs80338912(T;T)
Alt	rs80338912(A;A) rs80338912(T;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 UniProtKB (protein)
CLNACC	RCV000008508.4, RCV000008507.3,

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

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