rs770913157

Orientation

plus

Stabilized

plus

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

Make rs770913157(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

30965819

Gene

SETD1A

is a	snp
is	mentioned by
dbSNP	rs770913157
dbSNP (classic)	rs770913157
ClinGen	rs770913157
ebi	rs770913157
HLI	rs770913157
Exac	rs770913157
Gnomad	rs770913157
Varsome	rs770913157
LitVar	rs770913157
Map	rs770913157
PheGenI	rs770913157
Biobank	rs770913157
1000 genomes	rs770913157
hgdp	rs770913157
ensembl	rs770913157
geneview	rs770913157
scholar	rs770913157
google	rs770913157
pharmgkb	rs770913157
gwascentral	rs770913157
openSNP	rs770913157
23andMe	rs770913157
SNPshot	rs770913157
SNPdbe	rs770913157
MSV3d	rs770913157
GWAS Ctlg	rs770913157

Max Magnitude

3.5

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

referred to in the cited paper as 16:30977140_C/G and also as p.Y646X

ClinVar
Risk	rs770913157(G;G) rs770913157(T;T)
Alt	rs770913157(G;G) rs770913157(T;T)
Reference	Rs770913157(C;C)
Significance	Pathogenic
Disease	Schizophrenia
Variation	info
Gene	SETD1A
CLNDBN	Schizophrenia
Reversed	0
HGVS	NC_000016.9:g.30977140C>G
CLNSRC
CLNACC	RCV000210257.1,