rs869312150
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs869312150(C;T) |
Make rs869312150(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 101398945 |
Gene | GLA, RPL36A-HNRNPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs869312150 |
dbSNP (classic) | rs869312150 |
ClinGen | rs869312150 |
ebi | rs869312150 |
HLI | rs869312150 |
Exac | rs869312150 |
Gnomad | rs869312150 |
Varsome | rs869312150 |
LitVar | rs869312150 |
Map | rs869312150 |
PheGenI | rs869312150 |
Biobank | rs869312150 |
1000 genomes | rs869312150 |
hgdp | rs869312150 |
ensembl | rs869312150 |
geneview | rs869312150 |
scholar | rs869312150 |
rs869312150 | |
pharmgkb | rs869312150 |
gwascentral | rs869312150 |
openSNP | rs869312150 |
23andMe | rs869312150 |
SNPshot | rs869312150 |
SNPdbe | rs869312150 |
MSV3d | rs869312150 |
GWAS Ctlg | rs869312150 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312150(T;T) |
Alt | rs869312150(T;T) |
Reference | Rs869312150(C;C) |
Significance | Drug-response |
Disease | Deoxygalactonojirimycin response Fabry disease |
Variation | info |
Gene | RPL36A-HNRNPH2 GLA |
CLNDBN | Deoxygalactonojirimycin response Fabry disease |
Reversed | 1 |
HGVS | NC_000023.10:g.100653933G>A |
CLNSRC | |
CLNACC | RCV000208972.1, RCV000209531.1, |