rs121912596

Orientation

plus

Stabilized

plus

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

Make rs121912596(C;T)

Make rs121912596(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

210608527

Gene

CPS1

is a	snp
is	mentioned by
dbSNP	rs121912596
dbSNP (classic)	rs121912596
ClinGen	rs121912596
ebi	rs121912596
HLI	rs121912596
Exac	rs121912596
Gnomad	rs121912596
Varsome	rs121912596
LitVar	rs121912596
Map	rs121912596
PheGenI	rs121912596
Biobank	rs121912596
1000 genomes	rs121912596
hgdp	rs121912596
ensembl	rs121912596
geneview	rs121912596
scholar	rs121912596
google	rs121912596
pharmgkb	rs121912596
gwascentral	rs121912596
openSNP	rs121912596
23andMe	rs121912596
SNPshot	rs121912596
SNPdbe	rs121912596
MSV3d	rs121912596
GWAS Ctlg	rs121912596

Max Magnitude

0

OMIM	608307
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121912596(T;T)
Alt	rs121912596(T;T)
Reference	Rs121912596(C;C)
Significance	Pathogenic
Disease	Congenital hyperammonemia
Variation	info
Gene	CPS1
CLNDBN	Congenital hyperammonemia, type I
Reversed	0
HGVS	NC_000002.11:g.211473251C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002528.3,