rs140329381
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs140329381(C;C) |
Make rs140329381(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 101398504 |
Gene | GLA, RPL36A-HNRNPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs140329381 |
dbSNP (classic) | rs140329381 |
ClinGen | rs140329381 |
ebi | rs140329381 |
HLI | rs140329381 |
Exac | rs140329381 |
Gnomad | rs140329381 |
Varsome | rs140329381 |
LitVar | rs140329381 |
Map | rs140329381 |
PheGenI | rs140329381 |
Biobank | rs140329381 |
1000 genomes | rs140329381 |
hgdp | rs140329381 |
ensembl | rs140329381 |
geneview | rs140329381 |
scholar | rs140329381 |
rs140329381 | |
pharmgkb | rs140329381 |
gwascentral | rs140329381 |
openSNP | rs140329381 |
23andMe | rs140329381 |
SNPshot | rs140329381 |
SNPdbe | rs140329381 |
MSV3d | rs140329381 |
GWAS Ctlg | rs140329381 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140329381(A;A) rs140329381(C;C) |
Alt | rs140329381(A;A) rs140329381(C;C) |
Reference | Rs140329381(T;T) |
Significance | Drug-response |
Disease | Fabry disease Deoxygalactonojirimycin response not specified |
Variation | info |
Gene | RPL36A-HNRNPH2 GLA |
CLNDBN | Fabry disease Deoxygalactonojirimycin response not specified |
Reversed | 0 |
HGVS | NC_000023.10:g.100653492T>A; NC_000023.10:g.100653492T>C |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000078299.5, RCV000209181.1, RCV000209743.1, RCV000236089.1, |