rs200214298

Orientation

plus

Stabilized

plus

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

Make rs200214298(A;A)

Make rs200214298(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

210579729

Gene

CPS1

is a	snp
is	mentioned by
dbSNP	rs200214298
dbSNP (classic)	rs200214298
ClinGen	rs200214298
ebi	rs200214298
HLI	rs200214298
Exac	rs200214298
Gnomad	rs200214298
Varsome	rs200214298
LitVar	rs200214298
Map	rs200214298
PheGenI	rs200214298
Biobank	rs200214298
1000 genomes	rs200214298
hgdp	rs200214298
ensembl	rs200214298
geneview	rs200214298
scholar	rs200214298
google	rs200214298
pharmgkb	rs200214298
gwascentral	rs200214298
openSNP	rs200214298
23andMe	rs200214298
SNPshot	rs200214298
SNPdbe	rs200214298
MSV3d	rs200214298
GWAS Ctlg	rs200214298

Max Magnitude

0

ClinVar
Risk	rs200214298(A;A) rs200214298(T;T)
Alt	rs200214298(A;A) rs200214298(T;T)
Reference	Rs200214298(G;G)
Significance	Pathogenic
Disease	Congenital hyperammonemia
Variation	info
Gene	CPS1
CLNDBN	Congenital hyperammonemia, type I
Reversed	0
HGVS	NC_000002.11:g.211444453G>T
CLNSRC
CLNACC	RCV000317058.1,