rs387906725
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387906725(A;A) |
Make rs387906725(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 134475189 |
Gene | HPRT1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906725 |
dbSNP (classic) | rs387906725 |
ClinGen | rs387906725 |
ebi | rs387906725 |
HLI | rs387906725 |
Exac | rs387906725 |
Gnomad | rs387906725 |
Varsome | rs387906725 |
LitVar | rs387906725 |
Map | rs387906725 |
PheGenI | rs387906725 |
Biobank | rs387906725 |
1000 genomes | rs387906725 |
hgdp | rs387906725 |
ensembl | rs387906725 |
geneview | rs387906725 |
scholar | rs387906725 |
rs387906725 | |
pharmgkb | rs387906725 |
gwascentral | rs387906725 |
openSNP | rs387906725 |
23andMe | rs387906725 |
SNPshot | rs387906725 |
SNPdbe | rs387906725 |
MSV3d | rs387906725 |
GWAS Ctlg | rs387906725 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906725(A;A) |
Alt | rs387906725(A;A) |
Reference | Rs387906725(G;G) |
Significance | Pathogenic |
Disease | Lesch-nyhan syndrome Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
Variation | info |
Gene | HPRT1 |
CLNDBN | Lesch-nyhan syndrome, neurologic variant Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
Reversed | 0 |
HGVS | NC_000023.10:g.133609219G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022877.3, RCV000022878.3, |