rs1060502808
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs1060502808(-;-) |
Make rs1060502808(-;CA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 153693324 |
Gene | SLC6A8 |
is a | snp |
is | mentioned by |
dbSNP | rs1060502808 |
dbSNP (classic) | rs1060502808 |
ClinGen | rs1060502808 |
ebi | rs1060502808 |
HLI | rs1060502808 |
Exac | rs1060502808 |
Gnomad | rs1060502808 |
Varsome | rs1060502808 |
LitVar | rs1060502808 |
Map | rs1060502808 |
PheGenI | rs1060502808 |
Biobank | rs1060502808 |
1000 genomes | rs1060502808 |
hgdp | rs1060502808 |
ensembl | rs1060502808 |
geneview | rs1060502808 |
scholar | rs1060502808 |
rs1060502808 | |
pharmgkb | rs1060502808 |
gwascentral | rs1060502808 |
openSNP | rs1060502808 |
23andMe | rs1060502808 |
SNPshot | rs1060502808 |
SNPdbe | rs1060502808 |
MSV3d | rs1060502808 |
GWAS Ctlg | rs1060502808 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502808(-;-) |
Alt | rs1060502808(-;-) |
Reference | Rs1060502808(CA;CA) |
Significance | Pathogenic |
Disease | Creatine deficiency |
Variation | info |
Gene | SLC6A8 |
CLNDBN | Creatine deficiency, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.152958779_152958780delCA |
CLNSRC | |
CLNACC | RCV000472365.1, |