rs869312830

Orientation

plus

Stabilized

plus

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

Make rs869312830(-;-)

Reference

GRCh38.p2 38.2/147

Chromosome

16

Position

30965014

Gene

SETD1A

is a	snp
is	mentioned by
dbSNP	rs869312830
dbSNP (classic)	rs869312830
ClinGen	rs869312830
ebi	rs869312830
HLI	rs869312830
Exac	rs869312830
Gnomad	rs869312830
Varsome	rs869312830
LitVar	rs869312830
Map	rs869312830
PheGenI	rs869312830
Biobank	rs869312830
1000 genomes	rs869312830
hgdp	rs869312830
ensembl	rs869312830
geneview	rs869312830
scholar	rs869312830
google	rs869312830
pharmgkb	rs869312830
gwascentral	rs869312830
openSNP	rs869312830
23andMe	rs869312830
SNPshot	rs869312830
SNPdbe	rs869312830
MSV3d	rs869312830
GWAS Ctlg	rs869312830

Max Magnitude

3.5

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,