rs72549369
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs72549369(C;T) |
Make rs72549369(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 31397718 |
Gene | XDH |
is a | snp |
is | mentioned by |
dbSNP | rs72549369 |
dbSNP (classic) | rs72549369 |
ClinGen | rs72549369 |
ebi | rs72549369 |
HLI | rs72549369 |
Exac | rs72549369 |
Gnomad | rs72549369 |
Varsome | rs72549369 |
LitVar | rs72549369 |
Map | rs72549369 |
PheGenI | rs72549369 |
Biobank | rs72549369 |
1000 genomes | rs72549369 |
hgdp | rs72549369 |
ensembl | rs72549369 |
geneview | rs72549369 |
scholar | rs72549369 |
rs72549369 | |
pharmgkb | rs72549369 |
gwascentral | rs72549369 |
openSNP | rs72549369 |
23andMe | rs72549369 |
SNPshot | rs72549369 |
SNPdbe | rs72549369 |
MSV3d | rs72549369 |
GWAS Ctlg | rs72549369 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72549369(T;T) |
Alt | rs72549369(T;T) |
Reference | Rs72549369(C;C) |
Significance | Pathogenic |
Disease | Deficiency of xanthine oxidase |
Variation | info |
Gene | XDH |
CLNDBN | Deficiency of xanthine oxidase |
Reversed | 1 |
HGVS | NC_000002.11:g.31620584G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003090.3, |