rs781927744
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs781927744(C;C) |
Make rs781927744(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 101403968 |
Gene | GLA, RPL36A-HNRNPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs781927744 |
dbSNP (classic) | rs781927744 |
ClinGen | rs781927744 |
ebi | rs781927744 |
HLI | rs781927744 |
Exac | rs781927744 |
Gnomad | rs781927744 |
Varsome | rs781927744 |
LitVar | rs781927744 |
Map | rs781927744 |
PheGenI | rs781927744 |
Biobank | rs781927744 |
1000 genomes | rs781927744 |
hgdp | rs781927744 |
ensembl | rs781927744 |
geneview | rs781927744 |
scholar | rs781927744 |
rs781927744 | |
pharmgkb | rs781927744 |
gwascentral | rs781927744 |
openSNP | rs781927744 |
23andMe | rs781927744 |
SNPshot | rs781927744 |
SNPdbe | rs781927744 |
MSV3d | rs781927744 |
GWAS Ctlg | rs781927744 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs781927744(C;C) |
Alt | rs781927744(C;C) |
Reference | Rs781927744(T;T) |
Significance | Drug-response |
Disease | Deoxygalactonojirimycin response Fabry disease |
Variation | info |
Gene | RPL36A-HNRNPH2 GLA |
CLNDBN | Deoxygalactonojirimycin response Fabry disease |
Reversed | 0 |
HGVS | NC_000023.10:g.100658956T>C |
CLNSRC | |
CLNACC | RCV000209041.1, RCV000209598.1, |