rs398123229
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACAG;ACAG) | 0 | common in clinvar |
Make rs398123229(-;-) |
Make rs398123229(-;ACAG) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 101398370 |
Gene | GLA, RPL36A-HNRNPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs398123229 |
dbSNP (classic) | rs398123229 |
ClinGen | rs398123229 |
ebi | rs398123229 |
HLI | rs398123229 |
Exac | rs398123229 |
Gnomad | rs398123229 |
Varsome | rs398123229 |
LitVar | rs398123229 |
Map | rs398123229 |
PheGenI | rs398123229 |
Biobank | rs398123229 |
1000 genomes | rs398123229 |
hgdp | rs398123229 |
ensembl | rs398123229 |
geneview | rs398123229 |
scholar | rs398123229 |
rs398123229 | |
pharmgkb | rs398123229 |
gwascentral | rs398123229 |
openSNP | rs398123229 |
23andMe | rs398123229 |
SNPshot | rs398123229 |
SNPdbe | rs398123229 |
MSV3d | rs398123229 |
GWAS Ctlg | rs398123229 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123229(-;-) |
Alt | rs398123229(-;-) |
Reference | Rs398123229(ACAG;ACAG) |
Significance | Pathogenic |
Disease | Fabry disease |
Variation | info |
Gene | RPL36A-HNRNPH2 GLA |
CLNDBN | Fabry disease |
Reversed | 1 |
HGVS | NC_000023.10:g.100653358_100653361delCTGT |
CLNSRC | HGMD |
CLNACC | RCV000078308.4, |