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rs8192466

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common
(C;T) 2.5 uncertain, probably harmless
(T;T) 4 uncertain
ReferenceGRCh38 38.1/142
Chromosome11
Position27658560
GeneBDNF, BDNF-AS
is asnp
is mentioned by
dbSNPrs8192466
ebirs8192466
HLIrs8192466
Exacrs8192466
Varsomers8192466
Maprs8192466
PheGenIrs8192466
hapmaprs8192466
1000 genomesrs8192466
hgdprs8192466
ensemblrs8192466
gopubmedrs8192466
geneviewrs8192466
scholarrs8192466
googlers8192466
pharmgkbrs8192466
gwascentralrs8192466
openSNPrs8192466
23andMers8192466
23andMe allrs8192466
SNP Nexus

SNPshotrs8192466
SNPdbers8192466
MSV3drs8192466
GWAS Ctlgrs8192466
GMAF0.001377
Max Magnitude4
? (C;C) (C;T) (T;T) 28
OMIM113505
DescCENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
Variant0001
Relatedalso
Neighborrs6265
Distance191


ClinVar
Risk rs8192466(A,T;A,T)
Alt rs8192466(A,T;A,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 RCV000019266.27,



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


[PMID 17894414OA-icon.png] BDNF Val66Met variant and age of onset in schizophrenia.