rs121912592

Orientation

plus

Stabilized

plus

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

Make rs121912592(C;T)

Make rs121912592(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

210600636

Gene

CPS1

is a	snp
is	mentioned by
dbSNP	rs121912592
dbSNP (classic)	rs121912592
ClinGen	rs121912592
ebi	rs121912592
HLI	rs121912592
Exac	rs121912592
Gnomad	rs121912592
Varsome	rs121912592
LitVar	rs121912592
Map	rs121912592
PheGenI	rs121912592
Biobank	rs121912592
1000 genomes	rs121912592
hgdp	rs121912592
ensembl	rs121912592
geneview	rs121912592
scholar	rs121912592
google	rs121912592
pharmgkb	rs121912592
gwascentral	rs121912592
openSNP	rs121912592
23andMe	rs121912592
SNPshot	rs121912592
SNPdbe	rs121912592
MSV3d	rs121912592
GWAS Ctlg	rs121912592

Max Magnitude

0

OMIM	608307
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912592(A;A) rs121912592(T;T)
Alt	rs121912592(A;A) rs121912592(T;T)
Reference	Rs121912592(C;C)
Significance	Pathogenic
Disease	Congenital hyperammonemia
Variation	info
Gene	CPS1
CLNDBN	Congenital hyperammonemia, type I
Reversed	0
HGVS	NC_000002.11:g.211465360C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002520.2,