rs72470545
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs72470545(A;A) |
Make rs72470545(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 74532698 |
Gene | HTRA2, LOXL3 |
is a | snp |
is | mentioned by |
dbSNP | rs72470545 |
dbSNP (classic) | rs72470545 |
ClinGen | rs72470545 |
ebi | rs72470545 |
HLI | rs72470545 |
Exac | rs72470545 |
Gnomad | rs72470545 |
Varsome | rs72470545 |
LitVar | rs72470545 |
Map | rs72470545 |
PheGenI | rs72470545 |
Biobank | rs72470545 |
1000 genomes | rs72470545 |
hgdp | rs72470545 |
ensembl | rs72470545 |
geneview | rs72470545 |
scholar | rs72470545 |
rs72470545 | |
pharmgkb | rs72470545 |
gwascentral | rs72470545 |
openSNP | rs72470545 |
23andMe | rs72470545 |
SNPshot | rs72470545 |
SNPdbe | rs72470545 |
MSV3d | rs72470545 |
GWAS Ctlg | rs72470545 |
GMAF | 0.002296 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72470545(A;A) |
Alt | rs72470545(A;A) |
Reference | Rs72470545(G;G) |
Significance | Other |
Disease | Parkinson disease 13 Parkinson Disease |
Variation | info |
Gene | LOXL3 HTRA2 |
CLNDBN | Parkinson disease 13 Parkinson Disease, Dominant |
Reversed | 0 |
HGVS | NC_000002.11:g.74759825G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004589.5, RCV000272950.1, |
[PMID 18790661] Genetic variation of Omi/HtrA2 and Parkinson's disease.