rs1135640
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1135640(C;G) |
Make rs1135640(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 75953459 |
Gene | ACOX1 |
is a | snp |
is | mentioned by |
dbSNP | rs1135640 |
dbSNP (classic) | rs1135640 |
ClinGen | rs1135640 |
ebi | rs1135640 |
HLI | rs1135640 |
Exac | rs1135640 |
Gnomad | rs1135640 |
Varsome | rs1135640 |
LitVar | rs1135640 |
Map | rs1135640 |
PheGenI | rs1135640 |
Biobank | rs1135640 |
1000 genomes | rs1135640 |
hgdp | rs1135640 |
ensembl | rs1135640 |
geneview | rs1135640 |
scholar | rs1135640 |
rs1135640 | |
pharmgkb | rs1135640 |
gwascentral | rs1135640 |
openSNP | rs1135640 |
23andMe | rs1135640 |
SNPshot | rs1135640 |
SNPdbe | rs1135640 |
MSV3d | rs1135640 |
GWAS Ctlg | rs1135640 |
Merged from | Rs1137582 |
GMAF | 0.427 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1135640(G;G) |
Alt | rs1135640(G;G) |
Reference | Rs1135640(C;C) |
Significance | Non-pathogenic |
Disease | not specified Pseudoneonatal adrenoleukodystrophy |
Variation | info |
Gene | ACOX1 |
CLNDBN | not specified Pseudoneonatal adrenoleukodystrophy |
Reversed | 1 |
HGVS | NC_000017.10:g.73949540G>C |
CLNSRC | |
CLNACC | RCV000253358.1, RCV000405630.1, |