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rs869312694

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312694(G;T)
Make rs869312694(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position23644535
GeneMAGEL2
is asnp
is mentioned by
dbSNPrs869312694
ebirs869312694
HLIrs869312694
Exacrs869312694
Varsomers869312694
Maprs869312694
PheGenIrs869312694
hapmaprs869312694
1000 genomesrs869312694
hgdprs869312694
ensemblrs869312694
gopubmedrs869312694
geneviewrs869312694
scholarrs869312694
googlers869312694
pharmgkbrs869312694
gwascentralrs869312694
openSNPrs869312694
23andMers869312694
23andMe allrs869312694
SNP Nexus

SNPshotrs869312694
SNPdbers869312694
MSV3drs869312694
GWAS Ctlgrs869312694
Max Magnitude0
ClinVar
Risk rs869312694(T;T)
Alt rs869312694(T;T)
Reference rs869312694(G;G)
Significance Pathogenic
Disease Schaaf-yang syndrome
Variation info
Gene MAGEL2
CLNDBN Schaaf-yang syndrome
Reversed 1
HGVS NC_000015.9:g.23889682C>A
CLNSRC
CLNACC RCV000209903.1,