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rs398122417

From SNPedia

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


Make rs398122417(-;-)
ReferenceGRCh38 38.1/141
Chromosome15
Position23644561
GeneMAGEL2
is asnp
is mentioned by
dbSNPrs398122417
dbSNP (classic)rs398122417
ClinGenrs398122417
ebirs398122417
HLIrs398122417
Exacrs398122417
Gnomadrs398122417
Varsomers398122417
LitVarrs398122417
Maprs398122417
PheGenIrs398122417
Biobankrs398122417
1000 genomesrs398122417
hgdprs398122417
ensemblrs398122417
geneviewrs398122417
scholarrs398122417
googlers398122417
pharmgkbrs398122417
gwascentralrs398122417
openSNPrs398122417
23andMers398122417
SNPshotrs398122417
SNPdbers398122417
MSV3drs398122417
GWAS Ctlgrs398122417
Max Magnitude9
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,