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rs398122418

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 9 Prader-Willi-like syndrome; Schaaf-Yang syndrome
Make rs398122418(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position23644619
GeneMAGEL2
is asnp
is mentioned by
dbSNPrs398122418
ebirs398122418
HLIrs398122418
Exacrs398122418
Varsomers398122418
Maprs398122418
PheGenIrs398122418
hapmaprs398122418
1000 genomesrs398122418
hgdprs398122418
ensemblrs398122418
gopubmedrs398122418
geneviewrs398122418
scholarrs398122418
googlers398122418
pharmgkbrs398122418
gwascentralrs398122418
openSNPrs398122418
23andMers398122418
23andMe allrs398122418
SNP Nexus

SNPshotrs398122418
SNPdbers398122418
MSV3drs398122418
GWAS Ctlgrs398122418
Max Magnitude9
ClinVar
Risk rs398122418(T;T)
Alt rs398122418(T;T)
Reference rs398122418(C;C)
Significance Pathogenic
Disease Schaaf-yang syndrome
Variation info
Gene MAGEL2
CLNDBN Schaaf-yang syndrome
Reversed 1
HGVS NC_000015.9:g.23889766G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074487.6,