rs121912595

Orientation

plus

Stabilized

plus

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

Make rs121912595(A;A)

Make rs121912595(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

210640045

Gene

CPS1

is a	snp
is	mentioned by
dbSNP	rs121912595
dbSNP (classic)	rs121912595
ClinGen	rs121912595
ebi	rs121912595
HLI	rs121912595
Exac	rs121912595
Gnomad	rs121912595
Varsome	rs121912595
LitVar	rs121912595
Map	rs121912595
PheGenI	rs121912595
Biobank	rs121912595
1000 genomes	rs121912595
hgdp	rs121912595
ensembl	rs121912595
geneview	rs121912595
scholar	rs121912595
google	rs121912595
pharmgkb	rs121912595
gwascentral	rs121912595
openSNP	rs121912595
23andMe	rs121912595
SNPshot	rs121912595
SNPdbe	rs121912595
MSV3d	rs121912595
GWAS Ctlg	rs121912595

Max Magnitude

0

OMIM	608307
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121912595(A;A) rs121912595(T;T)
Alt	rs121912595(A;A) rs121912595(T;T)
Reference	Rs121912595(G;G)
Significance	Pathogenic
Disease	Congenital hyperammonemia
Variation	info
Gene	CPS1
CLNDBN	Congenital hyperammonemia, type I
Reversed	0
HGVS	NC_000002.11:g.211504769G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002526.3,