rs121965039

Orientation

minus

Stabilized

minus

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

Make rs121965039(G;T)

Make rs121965039(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124408601

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs121965039
dbSNP (classic)	rs121965039
ClinGen	rs121965039
ebi	rs121965039
HLI	rs121965039
Exac	rs121965039
Gnomad	rs121965039
Varsome	rs121965039
LitVar	rs121965039
Map	rs121965039
PheGenI	rs121965039
Biobank	rs121965039
1000 genomes	rs121965039
hgdp	rs121965039
ensembl	rs121965039
geneview	rs121965039
scholar	rs121965039
google	rs121965039
pharmgkb	rs121965039
gwascentral	rs121965039
openSNP	rs121965039
23andMe	rs121965039
SNPshot	rs121965039
SNPdbe	rs121965039
MSV3d	rs121965039
GWAS Ctlg	rs121965039

Max Magnitude

0

OMIM	613349
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121965039(A;A) rs121965039(T;T)
Alt	rs121965039(A;A) rs121965039(T;T)
Reference	Rs121965039(G;G)
Significance	Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126097170C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000175.3,