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rs869312831

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312831(C;T)
Make rs869312831(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position30966090
GeneSETD1A
is asnp
is mentioned by
dbSNPrs869312831
ebirs869312831
HLIrs869312831
Exacrs869312831
Varsomers869312831
Maprs869312831
PheGenIrs869312831
hapmaprs869312831
1000 genomesrs869312831
hgdprs869312831
ensemblrs869312831
gopubmedrs869312831
geneviewrs869312831
scholarrs869312831
googlers869312831
pharmgkbrs869312831
gwascentralrs869312831
openSNPrs869312831
23andMers869312831
23andMe allrs869312831
SNP Nexus

SNPshotrs869312831
SNPdbers869312831
MSV3drs869312831
GWAS Ctlgrs869312831
Max Magnitude0
also known as c.2209C>T and p.Gln737Ter

[PMID 26974950] Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

ClinVar
Risk rs869312831(T;T)
Alt rs869312831(T;T)
Reference rs869312831(C;C)
Significance Pathogenic
Disease Schizophrenia
Variation info
Gene SETD1A
CLNDBN Schizophrenia
Reversed 0
HGVS NC_000016.9:g.30977411C>T
CLNSRC
CLNACC RCV000210263.1,