rs121965046

Orientation

minus

Stabilized

minus

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

Make rs121965046(A;G)

Make rs121965046(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124403835

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs121965046
dbSNP (classic)	rs121965046
ClinGen	rs121965046
ebi	rs121965046
HLI	rs121965046
Exac	rs121965046
Gnomad	rs121965046
Varsome	rs121965046
LitVar	rs121965046
Map	rs121965046
PheGenI	rs121965046
Biobank	rs121965046
1000 genomes	rs121965046
hgdp	rs121965046
ensembl	rs121965046
geneview	rs121965046
scholar	rs121965046
google	rs121965046
pharmgkb	rs121965046
gwascentral	rs121965046
openSNP	rs121965046
23andMe	rs121965046
SNPshot	rs121965046
SNPdbe	rs121965046
MSV3d	rs121965046
GWAS Ctlg	rs121965046

Max Magnitude

0

OMIM	613349
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121965046(G;G)
Alt	rs121965046(G;G)
Reference	Rs121965046(A;A)
Significance	Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126092404T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000183.3,