rs121965041

Orientation

minus

Stabilized

minus

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

Make rs121965041(C;C)

Make rs121965041(C;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124403019

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs121965041
dbSNP (classic)	rs121965041
ClinGen	rs121965041
ebi	rs121965041
HLI	rs121965041
Exac	rs121965041
Gnomad	rs121965041
Varsome	rs121965041
LitVar	rs121965041
Map	rs121965041
PheGenI	rs121965041
Biobank	rs121965041
1000 genomes	rs121965041
hgdp	rs121965041
ensembl	rs121965041
geneview	rs121965041
scholar	rs121965041
google	rs121965041
pharmgkb	rs121965041
gwascentral	rs121965041
openSNP	rs121965041
23andMe	rs121965041
SNPshot	rs121965041
SNPdbe	rs121965041
MSV3d	rs121965041
GWAS Ctlg	rs121965041

Max Magnitude

0

OMIM	613349
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121965041(C;C)
Alt	rs121965041(C;C)
Reference	Rs121965041(G;G)
Significance	Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126091588C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000177.3,