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SETD1A

From SNPedia

is agene
is mentioned by
Full nameSET domain containing 1A
EntrezGene9739
PheGenI9739
VariationViewer9739
ClinVarSETD1A
GeneCardsSETD1A
dbSNP9739
SADR9739
HugeNav9739
wikipediaSETD1A
googleSETD1A
gopubmedSETD1A
EVSSETD1A
HEFalMpSETD1A
MyGene2SETD1A
23andMeSETD1A
UniProtO15047
EnsemblENSG00000099381
OMIM611052
# SNPs10
 Max MagnitudeChromosome positionSummary
rs6174444930,969,641
rs75436998030,965,995
rs75512786830,980,737
rs76170983830,958,857
rs76213179530,966,085
rs770913157030,965,819
rs869312829030,963,431
rs869312830030,965,014
rs869312831030,966,090
rs869312832030,966,052

Mutations in the SETD1A gene have been implicated in several neurodevelopment and/or psychiatric disorders.

[PMID 26974950] Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Note: dbSNP rs-ids are pending for the new mutations described in this publication, and they will be added to SNPedia when available.