Have questions? Visit https://www.reddit.com/r/SNPedia

rs1060499934

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499934(-;-)
Make rs1060499934(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position23644785
GeneMAGEL2
is asnp
is mentioned by
dbSNPrs1060499934
dbSNP (classic)rs1060499934
ClinGenrs1060499934
ebirs1060499934
HLIrs1060499934
Exacrs1060499934
Gnomadrs1060499934
Varsomers1060499934
LitVarrs1060499934
Maprs1060499934
PheGenIrs1060499934
Biobankrs1060499934
1000 genomesrs1060499934
hgdprs1060499934
ensemblrs1060499934
geneviewrs1060499934
scholarrs1060499934
googlers1060499934
pharmgkbrs1060499934
gwascentralrs1060499934
openSNPrs1060499934
23andMers1060499934
23andMe allrs1060499934
SNPshotrs1060499934
SNPdbers1060499934
MSV3drs1060499934
GWAS Ctlgrs1060499934
Max Magnitude0
ClinVar
Risk rs1060499934(-;-)
Alt rs1060499934(-;-)
Reference Rs1060499934(G;G)
Significance Pathogenic
Disease Schaaf-yang syndrome
Variation info
Gene MAGEL2
CLNDBN Schaaf-yang syndrome
Reversed 1
HGVS NC_000015.9:g.23889932delC
CLNSRC
CLNACC RCV000455050.1,