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rs869312829

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312829(A;G)
Make rs869312829(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position30963431
GeneSETD1A
is asnp
is mentioned by
dbSNPrs869312829
ebirs869312829
HLIrs869312829
Exacrs869312829
Varsomers869312829
Maprs869312829
PheGenIrs869312829
hapmaprs869312829
1000 genomesrs869312829
hgdprs869312829
ensemblrs869312829
gopubmedrs869312829
geneviewrs869312829
scholarrs869312829
googlers869312829
pharmgkbrs869312829
gwascentralrs869312829
openSNPrs869312829
23andMers869312829
23andMe allrs869312829
SNP Nexus

SNPshotrs869312829
SNPdbers869312829
MSV3drs869312829
GWAS Ctlgrs869312829
Max Magnitude0
also known as c.518-2A>G

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

ClinVar
Risk rs869312829(G;G)
Alt rs869312829(G;G)
Reference rs869312829(A;A)
Significance Pathogenic
Disease Schizophrenia
Variation info
Gene SETD1A
CLNDBN Schizophrenia
Reversed 0
HGVS NC_000016.9:g.30974752A>G
CLNSRC
CLNACC RCV000210278.1,