rs1047883

Orientation

plus

Stabilized

plus

Make rs1047883(A;A)

Make rs1047883(A;G)

Make rs1047883(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

210591913

Gene

CPS1

is a	snp
is	mentioned by
dbSNP	rs1047883
dbSNP (classic)	rs1047883
ClinGen	rs1047883
ebi	rs1047883
HLI	rs1047883
Exac	rs1047883
Gnomad	rs1047883
Varsome	rs1047883
LitVar	rs1047883
Map	rs1047883
PheGenI	rs1047883
Biobank	rs1047883
1000 genomes	rs1047883
hgdp	rs1047883
ensembl	rs1047883
geneview	rs1047883
scholar	rs1047883
google	rs1047883
pharmgkb	rs1047883
gwascentral	rs1047883
openSNP	rs1047883
23andMe	rs1047883
SNPshot	rs1047883
SNPdbe	rs1047883
MSV3d	rs1047883
GWAS Ctlg	rs1047883

GMAF

0.4362

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs1047883(G;G) rs1047883(T;T)
Alt	rs1047883(G;G) rs1047883(T;T)
Reference	rs1047883(A;A)
Significance	Other
Disease	not specified Congenital hyperammonemia
Variation	info
Gene	CPS1
CLNDBN	not specified Congenital hyperammonemia, type I
Reversed	0
HGVS	NC_000002.11:g.211456637A>G; NC_000002.11:g.211456637A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000116829.5, RCV000364698.1, RCV000275942.2, RCV000396067.1,

[PMID 31382961] Identification of genetic factors underlying persistent pulmonary hypertension of newborns in a cohort of Chinese neonates.