rs121965057

Orientation

minus

Stabilized

minus

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

Make rs121965057(C;G)

Make rs121965057(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124402930

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs121965057
dbSNP (classic)	rs121965057
ClinGen	rs121965057
ebi	rs121965057
HLI	rs121965057
Exac	rs121965057
Gnomad	rs121965057
Varsome	rs121965057
LitVar	rs121965057
Map	rs121965057
PheGenI	rs121965057
Biobank	rs121965057
1000 genomes	rs121965057
hgdp	rs121965057
ensembl	rs121965057
geneview	rs121965057
scholar	rs121965057
google	rs121965057
pharmgkb	rs121965057
gwascentral	rs121965057
openSNP	rs121965057
23andMe	rs121965057
SNPshot	rs121965057
SNPdbe	rs121965057
MSV3d	rs121965057
GWAS Ctlg	rs121965057

Max Magnitude

0

OMIM	613349
Desc
Variant	0033
Related	also

ClinVar
Risk	rs121965057(G;G)
Alt	rs121965057(G;G)
Reference	Rs121965057(C;C)
Significance	Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126091499G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000199.2,