rs121965051

Orientation

minus

Stabilized

minus

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

Make rs121965051(C;T)

Make rs121965051(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124403847

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs121965051
dbSNP (classic)	rs121965051
ClinGen	rs121965051
ebi	rs121965051
HLI	rs121965051
Exac	rs121965051
Gnomad	rs121965051
Varsome	rs121965051
LitVar	rs121965051
Map	rs121965051
PheGenI	rs121965051
Biobank	rs121965051
1000 genomes	rs121965051
hgdp	rs121965051
ensembl	rs121965051
geneview	rs121965051
scholar	rs121965051
google	rs121965051
pharmgkb	rs121965051
gwascentral	rs121965051
openSNP	rs121965051
23andMe	rs121965051
SNPshot	rs121965051
SNPdbe	rs121965051
MSV3d	rs121965051
GWAS Ctlg	rs121965051

Max Magnitude

0

OMIM	613349
Desc
Variant	0025
Related	also

ClinVar
Risk	rs121965051(G;G) rs121965051(T;T)
Alt	rs121965051(G;G) rs121965051(T;T)
Reference	Rs121965051(C;C)
Significance	Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126092416G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000191.2,