rs372966991
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs372966991(C;T) |
Make rs372966991(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 101403845 |
Gene | GLA, RPL36A-HNRNPH2 |
is a | snp |
is | mentioned by |
dbSNP | rs372966991 |
dbSNP (classic) | rs372966991 |
ClinGen | rs372966991 |
ebi | rs372966991 |
HLI | rs372966991 |
Exac | rs372966991 |
Gnomad | rs372966991 |
Varsome | rs372966991 |
LitVar | rs372966991 |
Map | rs372966991 |
PheGenI | rs372966991 |
Biobank | rs372966991 |
1000 genomes | rs372966991 |
hgdp | rs372966991 |
ensembl | rs372966991 |
geneview | rs372966991 |
scholar | rs372966991 |
rs372966991 | |
pharmgkb | rs372966991 |
gwascentral | rs372966991 |
openSNP | rs372966991 |
23andMe | rs372966991 |
SNPshot | rs372966991 |
SNPdbe | rs372966991 |
MSV3d | rs372966991 |
GWAS Ctlg | rs372966991 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372966991(A;A) rs372966991(T;T) |
Alt | rs372966991(A;A) rs372966991(T;T) |
Reference | Rs372966991(C;C) |
Significance | Pathogenic |
Disease | Fabry disease |
Variation | info |
Gene | RPL36A-HNRNPH2 GLA |
CLNDBN | Fabry disease |
Reversed | 0 |
HGVS | NC_000023.10:g.100658833C>A; NC_000023.10:g.100658833C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000078276.4, RCV000175540.4, |