rs8192466

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common
(C;T)	2.5	uncertain, probably harmless
(T;T)	4	uncertain

Reference

GRCh38 38.1/142

Chromosome

11

Position

27658560

Gene	BDNF, BDNF-AS

is a	snp
is	mentioned by
dbSNP	rs8192466
dbSNP (classic)	rs8192466
ClinGen	rs8192466
ebi	rs8192466
HLI	rs8192466
Exac	rs8192466
Gnomad	rs8192466
Varsome	rs8192466
LitVar	rs8192466
Map	rs8192466
PheGenI	rs8192466
Biobank	rs8192466
1000 genomes	rs8192466
hgdp	rs8192466
ensembl	rs8192466
geneview	rs8192466
scholar	rs8192466
google	rs8192466
pharmgkb	rs8192466
gwascentral	rs8192466
openSNP	rs8192466
23andMe	rs8192466
SNPshot	rs8192466
SNPdbe	rs8192466
MSV3d	rs8192466
GWAS Ctlg	rs8192466

GMAF

0.001377

Max Magnitude

4

?	(C;C) (C;T) (T;T)	28

OMIM	113505
Desc	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
Variant	0001
Related	also

ClinVar
Risk	rs8192466(A;A) Rs8192466(T;T)
Alt	rs8192466(A;A) Rs8192466(T;T)
Reference	Rs8192466(C;C)
Significance	Pathogenic
Disease	Congenital central hypoventilation
Variation	info
Gene	BDNF-AS BDNF
CLNDBN	Congenital central hypoventilation
Reversed	1
HGVS	NC_000011.9:g.27680107G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019266.28,

[PMID 17212826] TAMGeS: a Three-array Method for Genotyping of SNPs by a dual-colour approach.

[PMID 17894414] BDNF Val66Met variant and age of onset in schizophrenia.