rs770374710
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;G) | 9 | Possible miscall in Ancestry v2c data; otherwise, Prader-Willi-like syndrome; Schaaf-Yang syndrome |
Make rs770374710(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 23645746 |
Gene | MAGEL2 |
is a | snp |
is | mentioned by |
dbSNP | rs770374710 |
dbSNP (classic) | rs770374710 |
ClinGen | rs770374710 |
ebi | rs770374710 |
HLI | rs770374710 |
Exac | rs770374710 |
Gnomad | rs770374710 |
Varsome | rs770374710 |
LitVar | rs770374710 |
Map | rs770374710 |
PheGenI | rs770374710 |
Biobank | rs770374710 |
1000 genomes | rs770374710 |
hgdp | rs770374710 |
ensembl | rs770374710 |
geneview | rs770374710 |
scholar | rs770374710 |
rs770374710 | |
pharmgkb | rs770374710 |
gwascentral | rs770374710 |
openSNP | rs770374710 |
23andMe | rs770374710 |
SNPshot | rs770374710 |
SNPdbe | rs770374710 |
MSV3d | rs770374710 |
GWAS Ctlg | rs770374710 |
Max Magnitude | 9 |
c.1996dupC (p.Gln666Profs)
ClinVar | |
---|---|
Risk | rs770374710(G;G) |
Alt | rs770374710(G;G) |
Reference | Rs770374710(-;-) |
Significance | Pathogenic |
Disease | Schaaf-yang syndrome not provided |
Variation | info |
Gene | MAGEL2 |
CLNDBN | Schaaf-yang syndrome not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.23890894dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000170356.4, RCV000380351.1, |