rs869025435
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs869025435(-;-) |
Make rs869025435(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 101398546 |
Gene | GLA, RPL36A-HNRNPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs869025435 |
dbSNP (classic) | rs869025435 |
ClinGen | rs869025435 |
ebi | rs869025435 |
HLI | rs869025435 |
Exac | rs869025435 |
Gnomad | rs869025435 |
Varsome | rs869025435 |
LitVar | rs869025435 |
Map | rs869025435 |
PheGenI | rs869025435 |
Biobank | rs869025435 |
1000 genomes | rs869025435 |
hgdp | rs869025435 |
ensembl | rs869025435 |
geneview | rs869025435 |
scholar | rs869025435 |
rs869025435 | |
pharmgkb | rs869025435 |
gwascentral | rs869025435 |
openSNP | rs869025435 |
23andMe | rs869025435 |
SNPshot | rs869025435 |
SNPdbe | rs869025435 |
MSV3d | rs869025435 |
GWAS Ctlg | rs869025435 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025435(-;-) |
Alt | rs869025435(-;-) |
Reference | Rs869025435(C;C) |
Significance | Probable-Pathogenic |
Disease | Fabry disease |
Variation | info |
Gene | RPL36A-HNRNPH2 GLA |
CLNDBN | Fabry disease |
Reversed | 1 |
HGVS | NC_000023.10:g.100653534delG |
CLNSRC | |
CLNACC | RCV000208327.1, |