rs797044670
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GCTA;GCTA) | 0 | common in clinvar |
Make rs797044670(-;-) |
Make rs797044670(-;GCTA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 101403816 |
Gene | GLA, RPL36A-HNRNPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs797044670 |
dbSNP (classic) | rs797044670 |
ClinGen | rs797044670 |
ebi | rs797044670 |
HLI | rs797044670 |
Exac | rs797044670 |
Gnomad | rs797044670 |
Varsome | rs797044670 |
LitVar | rs797044670 |
Map | rs797044670 |
PheGenI | rs797044670 |
Biobank | rs797044670 |
1000 genomes | rs797044670 |
hgdp | rs797044670 |
ensembl | rs797044670 |
geneview | rs797044670 |
scholar | rs797044670 |
rs797044670 | |
pharmgkb | rs797044670 |
gwascentral | rs797044670 |
openSNP | rs797044670 |
23andMe | rs797044670 |
SNPshot | rs797044670 |
SNPdbe | rs797044670 |
MSV3d | rs797044670 |
GWAS Ctlg | rs797044670 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044670(-;-) |
Alt | rs797044670(-;-) |
Reference | Rs797044670(GCTA;GCTA) |
Significance | Pathogenic |
Disease | Fabry disease |
Variation | info |
Gene | RPL36A-HNRNPH2 GLA |
CLNDBN | Fabry disease |
Reversed | 1 |
HGVS | NC_000023.10:g.100658804_100658807delTAGC |
CLNSRC | |
CLNACC | RCV000175539.2, |