rs104894828
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104894828(A;A) |
Make rs104894828(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 101398467 |
Gene | GLA, RPL36A-HNRNPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs104894828 |
dbSNP (classic) | rs104894828 |
ClinGen | rs104894828 |
ebi | rs104894828 |
HLI | rs104894828 |
Exac | rs104894828 |
Gnomad | rs104894828 |
Varsome | rs104894828 |
LitVar | rs104894828 |
Map | rs104894828 |
PheGenI | rs104894828 |
Biobank | rs104894828 |
1000 genomes | rs104894828 |
hgdp | rs104894828 |
ensembl | rs104894828 |
geneview | rs104894828 |
scholar | rs104894828 |
rs104894828 | |
pharmgkb | rs104894828 |
gwascentral | rs104894828 |
openSNP | rs104894828 |
23andMe | rs104894828 |
SNPshot | rs104894828 |
SNPdbe | rs104894828 |
MSV3d | rs104894828 |
GWAS Ctlg | rs104894828 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894828(A;A) rs104894828(T;T) |
Alt | rs104894828(A;A) rs104894828(T;T) |
Reference | Rs104894828(G;G) |
Significance | Pathogenic |
Disease | Fabry disease Fabry disease Cardiovascular phenotype |
Variation | info |
Gene | RPL36A-HNRNPH2 GLA |
CLNDBN | Fabry disease, cardiac variant Fabry disease Cardiovascular phenotype |
Reversed | 1 |
HGVS | NC_000023.10:g.100653455C>T |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011461.2, RCV000011462.7, RCV000244581.1, |