rs398123224
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a Fabry disease mutation; X-linked so risk is to sons |
(T;T) | 6 | Fabry disease |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 101398468 |
Gene | GLA, RPL36A-HNRNPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs398123224 |
dbSNP (classic) | rs398123224 |
ClinGen | rs398123224 |
ebi | rs398123224 |
HLI | rs398123224 |
Exac | rs398123224 |
Gnomad | rs398123224 |
Varsome | rs398123224 |
LitVar | rs398123224 |
Map | rs398123224 |
PheGenI | rs398123224 |
Biobank | rs398123224 |
1000 genomes | rs398123224 |
hgdp | rs398123224 |
ensembl | rs398123224 |
geneview | rs398123224 |
scholar | rs398123224 |
rs398123224 | |
pharmgkb | rs398123224 |
gwascentral | rs398123224 |
openSNP | rs398123224 |
23andMe | rs398123224 |
SNPshot | rs398123224 |
SNPdbe | rs398123224 |
MSV3d | rs398123224 |
GWAS Ctlg | rs398123224 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs398123224(G;G) Rs398123224(T;T) |
Alt | rs398123224(G;G) Rs398123224(T;T) |
Reference | Rs398123224(C;C) |
Significance | Pathogenic |
Disease | Fabry disease not provided not specified |
Variation | info |
Gene | RPL36A-HNRNPH2 GLA |
CLNDBN | Fabry disease not provided not specified |
Reversed | 1 |
HGVS | NC_000023.10:g.100653456G>A; NC_000023.10:g.100653456G>C |
CLNSRC | HGMD |
CLNACC | RCV000078301.6, RCV000157879.2, RCV000156338.1, |