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rs767058690

From SNPedia

Orientationplus
Stabilizedplus
Make rs767058690(G;G)
Make rs767058690(G;T)
Make rs767058690(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position50720865
GeneSHANK3
is asnp
is mentioned by
dbSNPrs767058690
dbSNP (old)rs767058690
ClinGenrs767058690
ebirs767058690
HLIrs767058690
Exacrs767058690
Gnomadrs767058690
Varsomers767058690
Maprs767058690
PheGenIrs767058690
Biobankrs767058690
1000 genomesrs767058690
hgdprs767058690
ensemblrs767058690
gopubmedrs767058690
geneviewrs767058690
scholarrs767058690
googlers767058690
pharmgkbrs767058690
gwascentralrs767058690
openSNPrs767058690
23andMers767058690
23andMe allrs767058690
SNP Nexus

SNPshotrs767058690
SNPdbers767058690
MSV3drs767058690
GWAS Ctlgrs767058690
Max Magnitude
rs767058690, also known as c.3032G>T, p.Gly1011Val and G1011V, represents a rare mutation in the SHANK3 gene on chromosome 22.

The minor allele of this SNP has been reported as associated with either autism or the closely related Phelan-McDermid syndrome.[PMID 25188300OA-icon.png]