rs715

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs715(C;C)

Make rs715(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

210678331

Gene

CPS1

is a	snp
is	mentioned by
dbSNP	rs715
dbSNP (classic)	rs715
ClinGen	rs715
ebi	rs715
HLI	rs715
Exac	rs715
Gnomad	rs715
Varsome	rs715
LitVar	rs715
Map	rs715
PheGenI	rs715
Biobank	rs715
1000 genomes	rs715
hgdp	rs715
ensembl	rs715
geneview	rs715
scholar	rs715
google	rs715
pharmgkb	rs715
gwascentral	rs715
openSNP	rs715
23andMe	rs715
SNPshot	rs715
SNPdbe	rs715
MSV3d	rs715
GWAS Ctlg	rs715

GMAF

0.2355

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

GWAS snp
PMID	[PMID 23378610]
Trait	Metabolite levels
Title	Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
Risk Allele	T
P-val	3E-50
Odds Ratio	.61 [0.53-0.69] unit decrease

[PMID 19523221] Seq4SNPs: new software for retrieval of multiple, accurately annotated DNA sequences, ready formatted for SNP assay design.

GWAS snp
PMID	[PMID 23969696]
Trait	Fibrinogen
Title	Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
Risk Allele	T
P-val	2E-11
Odds Ratio	.01 [0.007-0.011] unit increase

GWAS snp
PMID	[PMID 24816252]
Trait	Blood metabolite levels
Title	An atlas of genetic influences on human blood metabolites.
Risk Allele	T
P-val	2E-147
Odds Ratio	.08 [0.07-0.082] unit decrease

ClinVar
Risk	rs715(C;C)
Alt	rs715(C;C)
Reference	Rs715(T;T)
Significance	Non-pathogenic
Disease	Congenital hyperammonemia
Variation	info
Gene	CPS1
CLNDBN	Congenital hyperammonemia, type I
Reversed	0
HGVS	NC_000002.11:g.211543055T>C
CLNSRC
CLNACC	RCV000343467.1,