rs398122417
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AT) | 9 | Prader-Willi-like syndrome; Schaaf-Yang syndrome |
(AT;AT) | 0 | common in clinvar |
Make rs398122417(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 23644561 |
Gene | MAGEL2 |
is a | snp |
is | mentioned by |
dbSNP | rs398122417 |
dbSNP (classic) | rs398122417 |
ClinGen | rs398122417 |
ebi | rs398122417 |
HLI | rs398122417 |
Exac | rs398122417 |
Gnomad | rs398122417 |
Varsome | rs398122417 |
LitVar | rs398122417 |
Map | rs398122417 |
PheGenI | rs398122417 |
Biobank | rs398122417 |
1000 genomes | rs398122417 |
hgdp | rs398122417 |
ensembl | rs398122417 |
geneview | rs398122417 |
scholar | rs398122417 |
rs398122417 | |
pharmgkb | rs398122417 |
gwascentral | rs398122417 |
openSNP | rs398122417 |
23andMe | rs398122417 |
SNPshot | rs398122417 |
SNPdbe | rs398122417 |
MSV3d | rs398122417 |
GWAS Ctlg | rs398122417 |
Max Magnitude | 9 |
ClinVar | |
---|---|
Risk | rs398122417(-;-) |
Alt | rs398122417(-;-) |
Reference | Rs398122417(AT;AT) |
Significance | Pathogenic |
Disease | Schaaf-yang syndrome |
Variation | info |
Gene | MAGEL2 |
CLNDBN | Schaaf-yang syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.23889708_23889709delAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074486.5, |