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rs879255534

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879255534(-;-)
Make rs879255534(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position50721764
GeneSHANK3
is asnp
is mentioned by
dbSNPrs879255534
dbSNP (classic)rs879255534
ClinGenrs879255534
ebirs879255534
HLIrs879255534
Exacrs879255534
Gnomadrs879255534
Varsomers879255534
LitVarrs879255534
Maprs879255534
PheGenIrs879255534
Biobankrs879255534
1000 genomesrs879255534
hgdprs879255534
ensemblrs879255534
geneviewrs879255534
scholarrs879255534
googlers879255534
pharmgkbrs879255534
gwascentralrs879255534
openSNPrs879255534
23andMers879255534
SNPshotrs879255534
SNPdbers879255534
MSV3drs879255534
GWAS Ctlgrs879255534
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs879255534(G;G)
Significance Pathogenic
Disease 22q13.3 deletion syndrome
Variation info
Gene SHANK3
CLNDBN 22q13.3 deletion syndrome
Reversed 0
HGVS NC_000022.10:g.51160192delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000043653.4,