rs6596189
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 2 |
Make rs6596189(C;C) |
Make rs6596189(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 135032479 |
Gene | C5orf66, PITX1 |
is a | snp |
is | mentioned by |
dbSNP | rs6596189 |
dbSNP (classic) | rs6596189 |
ClinGen | rs6596189 |
ebi | rs6596189 |
HLI | rs6596189 |
Exac | rs6596189 |
Gnomad | rs6596189 |
Varsome | rs6596189 |
LitVar | rs6596189 |
Map | rs6596189 |
PheGenI | rs6596189 |
Biobank | rs6596189 |
1000 genomes | rs6596189 |
hgdp | rs6596189 |
ensembl | rs6596189 |
geneview | rs6596189 |
scholar | rs6596189 |
rs6596189 | |
pharmgkb | rs6596189 |
gwascentral | rs6596189 |
openSNP | rs6596189 |
23andMe | rs6596189 |
SNPshot | rs6596189 |
SNPdbe | rs6596189 |
MSV3d | rs6596189 |
GWAS Ctlg | rs6596189 |
GMAF | 0.1607 |
Max Magnitude | 2 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 18053270] Individuals homozygous or heterozygous for the rs11959298(A)-rs6596189(C) haplotype risk allele were 2.54 and 1.59 fold more likely to have autism, respectively, compared to rs11959298(G)-rs6596189(T) carriers.
Note/caveat emptor: ~90% of the world's population carries what the authors from this for-profit genetic testing company call the "risk haplotype", yet the frequency of autism is less than 1% (perhaps 1 in 150).