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rs398122416

From SNPedia

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


Make rs398122416(-;-)
ReferenceGRCh38 38.1/141
Chromosome15
Position23645941
GeneMAGEL2
is asnp
is mentioned by
dbSNPrs398122416
dbSNP (classic)rs398122416
ClinGenrs398122416
ebirs398122416
HLIrs398122416
Exacrs398122416
Gnomadrs398122416
Varsomers398122416
LitVarrs398122416
Maprs398122416
PheGenIrs398122416
Biobankrs398122416
1000 genomesrs398122416
hgdprs398122416
ensemblrs398122416
geneviewrs398122416
scholarrs398122416
googlers398122416
pharmgkbrs398122416
gwascentralrs398122416
openSNPrs398122416
23andMers398122416
SNPshotrs398122416
SNPdbers398122416
MSV3drs398122416
GWAS Ctlgrs398122416
Max Magnitude9
ClinVar
Risk rs398122416(-;-)
Alt rs398122416(-;-)
Reference Rs398122416(C;C)
Significance Pathogenic
Disease Schaaf-yang syndrome
Variation info
Gene MAGEL2
CLNDBN Schaaf-yang syndrome
Reversed 1
HGVS NC_000015.9:g.23891088delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000074485.6,