rs121965040

Orientation

minus

Stabilized

minus

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

Make rs121965040(C;C)

Make rs121965040(C;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124405545

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs121965040
dbSNP (classic)	rs121965040
ClinGen	rs121965040
ebi	rs121965040
HLI	rs121965040
Exac	rs121965040
Gnomad	rs121965040
Varsome	rs121965040
LitVar	rs121965040
Map	rs121965040
PheGenI	rs121965040
Biobank	rs121965040
1000 genomes	rs121965040
hgdp	rs121965040
ensembl	rs121965040
geneview	rs121965040
scholar	rs121965040
google	rs121965040
pharmgkb	rs121965040
gwascentral	rs121965040
openSNP	rs121965040
23andMe	rs121965040
SNPshot	rs121965040
SNPdbe	rs121965040
MSV3d	rs121965040
GWAS Ctlg	rs121965040

Max Magnitude

0

OMIM	613349
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121965040(C;C)
Alt	rs121965040(C;C)
Reference	Rs121965040(G;G)
Significance	Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126094114C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000176.3,