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rs770913157

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs770913157(C;T)
Make rs770913157(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position30965819
GeneSETD1A
is asnp
is mentioned by
dbSNPrs770913157
ebirs770913157
HLIrs770913157
Exacrs770913157
Varsomers770913157
Maprs770913157
PheGenIrs770913157
hapmaprs770913157
1000 genomesrs770913157
hgdprs770913157
ensemblrs770913157
gopubmedrs770913157
geneviewrs770913157
scholarrs770913157
googlers770913157
pharmgkbrs770913157
gwascentralrs770913157
openSNPrs770913157
23andMers770913157
23andMe allrs770913157
SNP Nexus

SNPshotrs770913157
SNPdbers770913157
MSV3drs770913157
GWAS Ctlgrs770913157
Max Magnitude0
[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(T;T)
Alt 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,