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rs869312832

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs869312832(-;-)
Make rs869312832(-;C)
Make rs869312832(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position30966052
GeneSETD1A
is asnp
is mentioned by
dbSNPrs869312832
ebirs869312832
HLIrs869312832
Exacrs869312832
Varsomers869312832
Maprs869312832
PheGenIrs869312832
hapmaprs869312832
1000 genomesrs869312832
hgdprs869312832
ensemblrs869312832
gopubmedrs869312832
geneviewrs869312832
scholarrs869312832
googlers869312832
pharmgkbrs869312832
gwascentralrs869312832
openSNPrs869312832
23andMers869312832
23andMe allrs869312832
SNP Nexus

SNPshotrs869312832
SNPdbers869312832
MSV3drs869312832
GWAS Ctlgrs869312832
Max Magnitude0
also known as c.2171dupC and p.Ala725Serfs

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

ClinVar
Risk rs869312832(C;C)
Alt rs869312832(C;C)
Reference rs869312832(;)
Significance Pathogenic
Disease Schizophrenia
Variation info
Gene SETD1A
CLNDBN Schizophrenia
Reversed 0
HGVS NC_000016.9:g.30977373dupC
CLNSRC
CLNACC RCV000210279.1,