rs2817419

Orientation

plus

Stabilized

plus

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

Make rs2817419(A;A)

Make rs2817419(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

50845193

Gene

TFAP2B

is a	snp
is	mentioned by
dbSNP	rs2817419
dbSNP (classic)	rs2817419
ClinGen	rs2817419
ebi	rs2817419
HLI	rs2817419
Exac	rs2817419
Gnomad	rs2817419
Varsome	rs2817419
LitVar	rs2817419
Map	rs2817419
PheGenI	rs2817419
Biobank	rs2817419
1000 genomes	rs2817419
hgdp	rs2817419
ensembl	rs2817419
geneview	rs2817419
scholar	rs2817419
google	rs2817419
pharmgkb	rs2817419
gwascentral	rs2817419
openSNP	rs2817419
23andMe	rs2817419
SNPshot	rs2817419
SNPdbe	rs2817419
MSV3d	rs2817419
GWAS Ctlg	rs2817419

GMAF

0.2443

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

[PMID 20581741] Patterns of gene expression in the ductus arteriosus are related to environmental and genetic risk factors for persistent ductus patency

ClinVar
Risk	rs2817419(A;A)
Alt	rs2817419(A;A)
Reference	Rs2817419(G;G)
Significance	Non-pathogenic
Disease	Char syndrome
Variation	info
Gene	TFAP2B
CLNDBN	Char syndrome
Reversed	0
HGVS	NC_000006.11:g.50812906G>A
CLNSRC
CLNACC	RCV000317760.1,