rs727502824

Orientation

plus

Stabilized

plus

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

Make rs727502824(-;-)

Make rs727502824(-;GTG)

Make rs727502824(GTG;GTG)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

210642561

Gene

CPS1

is a	snp
is	mentioned by
dbSNP	rs727502824
dbSNP (classic)	rs727502824
ClinGen	rs727502824
ebi	rs727502824
HLI	rs727502824
Exac	rs727502824
Gnomad	rs727502824
Varsome	rs727502824
LitVar	rs727502824
Map	rs727502824
PheGenI	rs727502824
Biobank	rs727502824
1000 genomes	rs727502824
hgdp	rs727502824
ensembl	rs727502824
geneview	rs727502824
scholar	rs727502824
google	rs727502824
pharmgkb	rs727502824
gwascentral	rs727502824
openSNP	rs727502824
23andMe	rs727502824
SNPshot	rs727502824
SNPdbe	rs727502824
MSV3d	rs727502824
GWAS Ctlg	rs727502824

Max Magnitude

0

ClinVar
Risk	rs727502824(-;-)
Alt	rs727502824(-;-)
Reference	Rs727502824(GGT;GGT)
Significance	Pathogenic
Disease	Congenital hyperammonemia
Variation	info
Gene	CPS1
CLNDBN	Congenital hyperammonemia, type I
Reversed	0
HGVS	NC_000002.11:g.211507285_211507287delGTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000149915.4,