rs869312163
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869312163(C;C) |
Make rs869312163(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 101398032 |
Gene | GLA, RPL36A-HNRNPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs869312163 |
dbSNP (classic) | rs869312163 |
ClinGen | rs869312163 |
ebi | rs869312163 |
HLI | rs869312163 |
Exac | rs869312163 |
Gnomad | rs869312163 |
Varsome | rs869312163 |
LitVar | rs869312163 |
Map | rs869312163 |
PheGenI | rs869312163 |
Biobank | rs869312163 |
1000 genomes | rs869312163 |
hgdp | rs869312163 |
ensembl | rs869312163 |
geneview | rs869312163 |
scholar | rs869312163 |
rs869312163 | |
pharmgkb | rs869312163 |
gwascentral | rs869312163 |
openSNP | rs869312163 |
23andMe | rs869312163 |
SNPshot | rs869312163 |
SNPdbe | rs869312163 |
MSV3d | rs869312163 |
GWAS Ctlg | rs869312163 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312163(A;A) rs869312163(C;C) |
Alt | rs869312163(A;A) rs869312163(C;C) |
Reference | Rs869312163(G;G) |
Significance | Drug-response |
Disease | Fabry disease Deoxygalactonojirimycin response |
Variation | info |
Gene | RPL36A-HNRNPH2 GLA |
CLNDBN | Fabry disease Deoxygalactonojirimycin response |
Reversed | 1 |
HGVS | NC_000023.10:g.100653020C>G |
CLNSRC | |
CLNACC | RCV000209490.1, RCV000209758.1, |