rs104894834
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 | 101403846 |
Gene | GLA, RPL36A-HNRNPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs104894834 |
dbSNP (classic) | rs104894834 |
ClinGen | rs104894834 |
ebi | rs104894834 |
HLI | rs104894834 |
Exac | rs104894834 |
Gnomad | rs104894834 |
Varsome | rs104894834 |
LitVar | rs104894834 |
Map | rs104894834 |
PheGenI | rs104894834 |
Biobank | rs104894834 |
1000 genomes | rs104894834 |
hgdp | rs104894834 |
ensembl | rs104894834 |
geneview | rs104894834 |
scholar | rs104894834 |
rs104894834 | |
pharmgkb | rs104894834 |
gwascentral | rs104894834 |
openSNP | rs104894834 |
23andMe | rs104894834 |
SNPshot | rs104894834 |
SNPdbe | rs104894834 |
MSV3d | rs104894834 |
GWAS Ctlg | rs104894834 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | Rs104894834(T;T) |
Alt | Rs104894834(T;T) |
Reference | Rs104894834(C;C) |
Significance | Pathogenic |
Disease | Fabry disease not provided |
Variation | info |
Gene | RPL36A-HNRNPH2 GLA |
CLNDBN | Fabry disease not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.100658834G>A |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011470.7, RCV000078275.6, RCV000482440.1, |