rs80338916

Orientation

plus

Stabilized

plus

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

Make rs80338916(C;C)

Make rs80338916(C;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

50837974

Gene

TFAP2B

is a	snp
is	mentioned by
dbSNP	rs80338916
dbSNP (classic)	rs80338916
ClinGen	rs80338916
ebi	rs80338916
HLI	rs80338916
Exac	rs80338916
Gnomad	rs80338916
Varsome	rs80338916
LitVar	rs80338916
Map	rs80338916
PheGenI	rs80338916
Biobank	rs80338916
1000 genomes	rs80338916
hgdp	rs80338916
ensembl	rs80338916
geneview	rs80338916
scholar	rs80338916
google	rs80338916
pharmgkb	rs80338916
gwascentral	rs80338916
openSNP	rs80338916
23andMe	rs80338916
SNPshot	rs80338916
SNPdbe	rs80338916
MSV3d	rs80338916
GWAS Ctlg	rs80338916

Max Magnitude

0

ClinVar
Risk	rs80338916(C;C)
Alt	rs80338916(C;C)
Reference	Rs80338916(G;G)
Significance	Pathogenic
Disease	Char syndrome
Variation	info
Gene	TFAP2B
CLNDBN	Char syndrome
Reversed	0
HGVS	NC_000006.11:g.50805687G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020533.2,

[PMID 15684060] Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.