rs28935489
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28935489(C;T) |
Make rs28935489(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 101398479 |
Gene | GLA, RPL36A-HNRNPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs28935489 |
dbSNP (classic) | rs28935489 |
ClinGen | rs28935489 |
ebi | rs28935489 |
HLI | rs28935489 |
Exac | rs28935489 |
Gnomad | rs28935489 |
Varsome | rs28935489 |
LitVar | rs28935489 |
Map | rs28935489 |
PheGenI | rs28935489 |
Biobank | rs28935489 |
1000 genomes | rs28935489 |
hgdp | rs28935489 |
ensembl | rs28935489 |
geneview | rs28935489 |
scholar | rs28935489 |
rs28935489 | |
pharmgkb | rs28935489 |
gwascentral | rs28935489 |
openSNP | rs28935489 |
23andMe | rs28935489 |
SNPshot | rs28935489 |
SNPdbe | rs28935489 |
MSV3d | rs28935489 |
GWAS Ctlg | rs28935489 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28935489(G;G) rs28935489(T;T) |
Alt | rs28935489(G;G) rs28935489(T;T) |
Reference | Rs28935489(C;C) |
Significance | Pathogenic |
Disease | Fabry disease not specified |
Variation | info |
Gene | RPL36A-HNRNPH2 GLA |
CLNDBN | Fabry disease not specified |
Reversed | 1 |
HGVS | NC_000023.10:g.100653467G>A; NC_000023.10:g.100653467G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011484.4, RCV000277132.1, |