rs121912593

Orientation

plus

Stabilized

plus

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

Make rs121912593(C;T)

Make rs121912593(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

210573301

Gene

CPS1

is a	snp
is	mentioned by
dbSNP	rs121912593
dbSNP (classic)	rs121912593
ClinGen	rs121912593
ebi	rs121912593
HLI	rs121912593
Exac	rs121912593
Gnomad	rs121912593
Varsome	rs121912593
LitVar	rs121912593
Map	rs121912593
PheGenI	rs121912593
Biobank	rs121912593
1000 genomes	rs121912593
hgdp	rs121912593
ensembl	rs121912593
geneview	rs121912593
scholar	rs121912593
google	rs121912593
pharmgkb	rs121912593
gwascentral	rs121912593
openSNP	rs121912593
23andMe	rs121912593
SNPshot	rs121912593
SNPdbe	rs121912593
MSV3d	rs121912593
GWAS Ctlg	rs121912593

Max Magnitude

0

OMIM	608307
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912593(T;T)
Alt	rs121912593(T;T)
Reference	Rs121912593(C;C)
Significance	Pathogenic
Disease	Congenital hyperammonemia
Variation	info
Gene	CPS1
CLNDBN	Congenital hyperammonemia, type I
Reversed	0
HGVS	NC_000002.11:g.211438025C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002521.2,