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rs869312830

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312830(-;-)
Make rs869312830(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position30965014
GeneSETD1A
is asnp
is mentioned by
dbSNPrs869312830
ebirs869312830
HLIrs869312830
Exacrs869312830
Varsomers869312830
Maprs869312830
PheGenIrs869312830
hapmaprs869312830
1000 genomesrs869312830
hgdprs869312830
ensemblrs869312830
gopubmedrs869312830
geneviewrs869312830
scholarrs869312830
googlers869312830
pharmgkbrs869312830
gwascentralrs869312830
openSNPrs869312830
23andMers869312830
23andMe allrs869312830
SNP Nexus

SNPshotrs869312830
SNPdbers869312830
MSV3drs869312830
GWAS Ctlgrs869312830
Max Magnitude0
also known as c.1272delC and p.Tyr425Thrfs

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

ClinVar
Risk rs869312830(;)
Alt rs869312830(;)
Reference rs869312830(C;C)
Significance Pathogenic
Disease Schizophrenia
Variation info
Gene SETD1A
CLNDBN Schizophrenia
Reversed 0
HGVS NC_000016.9:g.30976335delC
CLNSRC
CLNACC RCV000210255.1,