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rs770374710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 9 Possible miscall in Ancestry v2c data; otherwise, Prader-Willi-like syndrome; Schaaf-Yang syndrome
Make rs770374710(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position23645746
GeneMAGEL2
is asnp
is mentioned by
dbSNPrs770374710
dbSNP (classic)rs770374710
ClinGenrs770374710
ebirs770374710
HLIrs770374710
Exacrs770374710
Gnomadrs770374710
Varsomers770374710
LitVarrs770374710
Maprs770374710
PheGenIrs770374710
Biobankrs770374710
1000 genomesrs770374710
hgdprs770374710
ensemblrs770374710
geneviewrs770374710
scholarrs770374710
googlers770374710
pharmgkbrs770374710
gwascentralrs770374710
openSNPrs770374710
23andMers770374710
SNPshotrs770374710
SNPdbers770374710
MSV3drs770374710
GWAS Ctlgrs770374710
Max Magnitude9

c.1996dupC (p.Gln666Profs)

ClinVar
Risk rs770374710(G;G)
Alt rs770374710(G;G)
Reference Rs770374710(-;-)
Significance Pathogenic
Disease Schaaf-yang syndrome not provided
Variation info
Gene MAGEL2
CLNDBN Schaaf-yang syndrome not provided
Reversed 0
HGVS NC_000015.9:g.23890894dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000170356.4, RCV000380351.1,