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rs398122415

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;T) 9 Prader-Willi-like syndrome; Schaaf-Yang syndrome
(T;T) 0 common in clinvar


Make rs398122415(-;-)
ReferenceGRCh38 38.1/141
Chromosome15
Position23646091
GeneMAGEL2
is asnp
is mentioned by
dbSNPrs398122415
dbSNP (classic)rs398122415
ClinGenrs398122415
ebirs398122415
HLIrs398122415
Exacrs398122415
Gnomadrs398122415
Varsomers398122415
LitVarrs398122415
Maprs398122415
PheGenIrs398122415
Biobankrs398122415
1000 genomesrs398122415
hgdprs398122415
ensemblrs398122415
geneviewrs398122415
scholarrs398122415
googlers398122415
pharmgkbrs398122415
gwascentralrs398122415
openSNPrs398122415
23andMers398122415
SNPshotrs398122415
SNPdbers398122415
MSV3drs398122415
GWAS Ctlgrs398122415
Max Magnitude9
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,