rs121912594

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common genotype

Make rs121912594(A;C)

Make rs121912594(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

210675762

Gene

CPS1

is a	snp
is	mentioned by
dbSNP	rs121912594
dbSNP (classic)	rs121912594
ClinGen	rs121912594
ebi	rs121912594
HLI	rs121912594
Exac	rs121912594
Gnomad	rs121912594
Varsome	rs121912594
LitVar	rs121912594
Map	rs121912594
PheGenI	rs121912594
Biobank	rs121912594
1000 genomes	rs121912594
hgdp	rs121912594
ensembl	rs121912594
geneview	rs121912594
scholar	rs121912594
google	rs121912594
pharmgkb	rs121912594
gwascentral	rs121912594
openSNP	rs121912594
23andMe	rs121912594
SNPshot	rs121912594
SNPdbe	rs121912594
MSV3d	rs121912594
GWAS Ctlg	rs121912594

Max Magnitude

0

OMIM	608307
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121912594(C;C)
Alt	rs121912594(C;C)
Reference	Rs121912594(A;A)
Significance	Other
Disease	Pulmonary hypertension Venoocclusive disease after bone marrow transplantation
Variation	info
Gene	CPS1
CLNDBN	Pulmonary hypertension, neonatal, susceptibility to Venoocclusive disease after bone marrow transplantation, susceptibility to
Reversed	0
HGVS	NC_000002.11:g.211540486A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002524.7, RCV000002525.7,