rs28935494
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28935494(C;C) |
Make rs28935494(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 101398018 |
Gene | GLA, RPL36A-HNRNPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs28935494 |
dbSNP (classic) | rs28935494 |
ClinGen | rs28935494 |
ebi | rs28935494 |
HLI | rs28935494 |
Exac | rs28935494 |
Gnomad | rs28935494 |
Varsome | rs28935494 |
LitVar | rs28935494 |
Map | rs28935494 |
PheGenI | rs28935494 |
Biobank | rs28935494 |
1000 genomes | rs28935494 |
hgdp | rs28935494 |
ensembl | rs28935494 |
geneview | rs28935494 |
scholar | rs28935494 |
rs28935494 | |
pharmgkb | rs28935494 |
gwascentral | rs28935494 |
openSNP | rs28935494 |
23andMe | rs28935494 |
SNPshot | rs28935494 |
SNPdbe | rs28935494 |
MSV3d | rs28935494 |
GWAS Ctlg | rs28935494 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28935494(A;A) rs28935494(C;C) |
Alt | rs28935494(A;A) rs28935494(C;C) |
Reference | Rs28935494(G;G) |
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.100653006C>G; NC_000023.10:g.100653006C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011492.5, RCV000235836.1, |