rs782197638
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs782197638(C;T) |
Make rs782197638(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 101403819 |
Gene | GLA, RPL36A-HNRNPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs782197638 |
dbSNP (classic) | rs782197638 |
ClinGen | rs782197638 |
ebi | rs782197638 |
HLI | rs782197638 |
Exac | rs782197638 |
Gnomad | rs782197638 |
Varsome | rs782197638 |
LitVar | rs782197638 |
Map | rs782197638 |
PheGenI | rs782197638 |
Biobank | rs782197638 |
1000 genomes | rs782197638 |
hgdp | rs782197638 |
ensembl | rs782197638 |
geneview | rs782197638 |
scholar | rs782197638 |
rs782197638 | |
pharmgkb | rs782197638 |
gwascentral | rs782197638 |
openSNP | rs782197638 |
23andMe | rs782197638 |
SNPshot | rs782197638 |
SNPdbe | rs782197638 |
MSV3d | rs782197638 |
GWAS Ctlg | rs782197638 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782197638(T;T) |
Alt | rs782197638(T;T) |
Reference | Rs782197638(C;C) |
Significance | Drug-response |
Disease | Fabry disease Deoxygalactonojirimycin response |
Variation | info |
Gene | RPL36A-HNRNPH2 GLA |
CLNDBN | Fabry disease Deoxygalactonojirimycin response |
Reversed | 0 |
HGVS | NC_000023.10:g.100658807C>T |
CLNSRC | |
CLNACC | RCV000209198.1, RCV000209589.1, |