rs1057519609
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TTC;TTC) | 0 | common in clinvar |
Make rs1057519609(-;-) |
Make rs1057519609(-;TTC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 101397950 |
Gene | GLA, RPL36A-HNRNPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519609 |
dbSNP (classic) | rs1057519609 |
ClinGen | rs1057519609 |
ebi | rs1057519609 |
HLI | rs1057519609 |
Exac | rs1057519609 |
Gnomad | rs1057519609 |
Varsome | rs1057519609 |
LitVar | rs1057519609 |
Map | rs1057519609 |
PheGenI | rs1057519609 |
Biobank | rs1057519609 |
1000 genomes | rs1057519609 |
hgdp | rs1057519609 |
ensembl | rs1057519609 |
geneview | rs1057519609 |
scholar | rs1057519609 |
rs1057519609 | |
pharmgkb | rs1057519609 |
gwascentral | rs1057519609 |
openSNP | rs1057519609 |
23andMe | rs1057519609 |
SNPshot | rs1057519609 |
SNPdbe | rs1057519609 |
MSV3d | rs1057519609 |
GWAS Ctlg | rs1057519609 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519609(-;-) |
Alt | rs1057519609(-;-) |
Reference | Rs1057519609(TTC;TTC) |
Significance | Pathogenic |
Disease | Fabry disease |
Variation | info |
Gene | RPL36A-HNRNPH2 GLA |
CLNDBN | Fabry disease |
Reversed | 1 |
HGVS | NC_000023.10:g.100652938_100652940delGAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011512.4, |