rs28940283

Orientation

plus

Stabilized

plus

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

Make rs28940283(A;G)

Make rs28940283(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

210591893

Gene

CPS1

is a	snp
is	mentioned by
dbSNP	rs28940283
dbSNP (classic)	rs28940283
ClinGen	rs28940283
ebi	rs28940283
HLI	rs28940283
Exac	rs28940283
Gnomad	rs28940283
Varsome	rs28940283
LitVar	rs28940283
Map	rs28940283
PheGenI	rs28940283
Biobank	rs28940283
1000 genomes	rs28940283
hgdp	rs28940283
ensembl	rs28940283
geneview	rs28940283
scholar	rs28940283
google	rs28940283
pharmgkb	rs28940283
gwascentral	rs28940283
openSNP	rs28940283
23andMe	rs28940283
SNPshot	rs28940283
SNPdbe	rs28940283
MSV3d	rs28940283
GWAS Ctlg	rs28940283

Max Magnitude

0

OMIM	608307
Desc	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
Variant	0004
Related	also

ClinVar
Risk	rs28940283(G;G)
Alt	rs28940283(G;G)
Reference	Rs28940283(A;A)
Significance	Pathogenic
Disease	Congenital hyperammonemia
Variation	info
Gene	CPS1
CLNDBN	Congenital hyperammonemia, type I
Reversed	0
HGVS	NC_000002.11:g.211456617A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002522.4,