rs119484087
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs119484087(A;T) |
Make rs119484087(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 12995006 |
Gene | ELAC2 |
is a | snp |
is | mentioned by |
dbSNP | rs119484087 |
dbSNP (classic) | rs119484087 |
ClinGen | rs119484087 |
ebi | rs119484087 |
HLI | rs119484087 |
Exac | rs119484087 |
Gnomad | rs119484087 |
Varsome | rs119484087 |
LitVar | rs119484087 |
Map | rs119484087 |
PheGenI | rs119484087 |
Biobank | rs119484087 |
1000 genomes | rs119484087 |
hgdp | rs119484087 |
ensembl | rs119484087 |
geneview | rs119484087 |
scholar | rs119484087 |
rs119484087 | |
pharmgkb | rs119484087 |
gwascentral | rs119484087 |
openSNP | rs119484087 |
23andMe | rs119484087 |
SNPshot | rs119484087 |
SNPdbe | rs119484087 |
MSV3d | rs119484087 |
GWAS Ctlg | rs119484087 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119484087(G;G) rs119484087(T;T) |
Alt | rs119484087(G;G) rs119484087(T;T) |
Reference | Rs119484087(A;A) |
Significance | Pathogenic |
Disease | Prostate cancer Combined oxidative phosphorylation deficiency 17 |
Variation | info |
Gene | ELAC2 |
CLNDBN | Prostate cancer, hereditary, 2 Combined oxidative phosphorylation deficiency 17 |
Reversed | 1 |
HGVS | NC_000017.10:g.12898323T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005362.4, RCV000230766.1, |