rs533487738
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs533487738(C;C) |
Make rs533487738(C;G) |
Make rs533487738(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 14 |
Position | 73136373 |
Gene | PSEN1 |
is a | snp |
is | mentioned by |
dbSNP | rs533487738 |
dbSNP (classic) | rs533487738 |
ClinGen | rs533487738 |
ebi | rs533487738 |
HLI | rs533487738 |
Exac | rs533487738 |
Gnomad | rs533487738 |
Varsome | rs533487738 |
LitVar | rs533487738 |
Map | rs533487738 |
PheGenI | rs533487738 |
Biobank | rs533487738 |
1000 genomes | rs533487738 |
hgdp | rs533487738 |
ensembl | rs533487738 |
geneview | rs533487738 |
scholar | rs533487738 |
rs533487738 | |
pharmgkb | rs533487738 |
gwascentral | rs533487738 |
openSNP | rs533487738 |
23andMe | rs533487738 |
SNPshot | rs533487738 |
SNPdbe | rs533487738 |
MSV3d | rs533487738 |
GWAS Ctlg | rs533487738 |
Max Magnitude | 0 |
[PMID 27569544] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.