rs522444
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs522444(C;C) |
Make rs522444(C;G) |
Make rs522444(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 170074763 |
Gene | KIFAP3 |
is a | snp |
is | mentioned by |
dbSNP | rs522444 |
dbSNP (classic) | rs522444 |
ClinGen | rs522444 |
ebi | rs522444 |
HLI | rs522444 |
Exac | rs522444 |
Gnomad | rs522444 |
Varsome | rs522444 |
LitVar | rs522444 |
Map | rs522444 |
PheGenI | rs522444 |
Biobank | rs522444 |
1000 genomes | rs522444 |
hgdp | rs522444 |
ensembl | rs522444 |
geneview | rs522444 |
scholar | rs522444 |
rs522444 | |
pharmgkb | rs522444 |
gwascentral | rs522444 |
openSNP | rs522444 |
23andMe | rs522444 |
SNPshot | rs522444 |
SNPdbe | rs522444 |
MSV3d | rs522444 |
GWAS Ctlg | rs522444 |
GMAF | 0.152 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
[PMID 19451621] homozygosity for the favorable allele (CC) associated with a 14 month survival advantage in ALS patients. further analysis (sequence, genotypic, and functional) showed LD between rs1541160 and rs522444 and that favorable alleles correlate with reduced KIFAP3 expression