rs869312832

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;C)	3.5	Possible association with schizophrenia

Make rs869312832(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

16

Position

30966052

Gene

SETD1A

is a	snp
is	mentioned by
dbSNP	rs869312832
dbSNP (classic)	rs869312832
ClinGen	rs869312832
ebi	rs869312832
HLI	rs869312832
Exac	rs869312832
Gnomad	rs869312832
Varsome	rs869312832
LitVar	rs869312832
Map	rs869312832
PheGenI	rs869312832
Biobank	rs869312832
1000 genomes	rs869312832
hgdp	rs869312832
ensembl	rs869312832
geneview	rs869312832
scholar	rs869312832
google	rs869312832
pharmgkb	rs869312832
gwascentral	rs869312832
openSNP	rs869312832
23andMe	rs869312832
SNPshot	rs869312832
SNPdbe	rs869312832
MSV3d	rs869312832
GWAS Ctlg	rs869312832

Max Magnitude

3.5

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,