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rs1057519406

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519406(G;T)
Make rs1057519406(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50684651
GeneSHANK3
is asnp
is mentioned by
dbSNPrs1057519406
dbSNP (old)rs1057519406
ClinGenrs1057519406
ebirs1057519406
HLIrs1057519406
Exacrs1057519406
Gnomadrs1057519406
Varsomers1057519406
LitVarrs1057519406
Maprs1057519406
PheGenIrs1057519406
Biobankrs1057519406
1000 genomesrs1057519406
hgdprs1057519406
ensemblrs1057519406
gopubmedrs1057519406
geneviewrs1057519406
scholarrs1057519406
googlers1057519406
pharmgkbrs1057519406
gwascentralrs1057519406
openSNPrs1057519406
23andMers1057519406
23andMe allrs1057519406
SNPshotrs1057519406
SNPdbers1057519406
MSV3drs1057519406
GWAS Ctlgrs1057519406
Max Magnitude0
ClinVar
Risk rs1057519406(T;T)
Alt rs1057519406(T;T)
Reference Rs1057519406(G;G)
Significance Probable-Pathogenic
Disease 22q13.3 deletion syndrome
Variation info
Gene SHANK3
CLNDBN 22q13.3 deletion syndrome
Reversed 0
HGVS NC_000022.10:g.51123079G>T
CLNSRC
CLNACC RCV000417108.1,