rs398122415
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 9 | Prader-Willi-like syndrome; Schaaf-Yang syndrome |
(T;T) | 0 | common in clinvar |
Make rs398122415(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 23646091 |
Gene | MAGEL2 |
is a | snp |
is | mentioned by |
dbSNP | rs398122415 |
dbSNP (classic) | rs398122415 |
ClinGen | rs398122415 |
ebi | rs398122415 |
HLI | rs398122415 |
Exac | rs398122415 |
Gnomad | rs398122415 |
Varsome | rs398122415 |
LitVar | rs398122415 |
Map | rs398122415 |
PheGenI | rs398122415 |
Biobank | rs398122415 |
1000 genomes | rs398122415 |
hgdp | rs398122415 |
ensembl | rs398122415 |
geneview | rs398122415 |
scholar | rs398122415 |
rs398122415 | |
pharmgkb | rs398122415 |
gwascentral | rs398122415 |
openSNP | rs398122415 |
23andMe | rs398122415 |
SNPshot | rs398122415 |
SNPdbe | rs398122415 |
MSV3d | rs398122415 |
GWAS Ctlg | rs398122415 |
Max Magnitude | 9 |
ClinVar | |
---|---|
Risk | rs398122415(-;-) |
Alt | rs398122415(-;-) |
Reference | Rs398122415(T;T) |
Significance | Pathogenic |
Disease | Schaaf-yang syndrome |
Variation | info |
Gene | MAGEL2 |
CLNDBN | Schaaf-yang syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.23891238delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074484.6, |