rs121965043

Orientation

minus

Stabilized

minus

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

Make rs121965043(C;C)

Make rs121965043(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124398057

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs121965043
dbSNP (classic)	rs121965043
ClinGen	rs121965043
ebi	rs121965043
HLI	rs121965043
Exac	rs121965043
Gnomad	rs121965043
Varsome	rs121965043
LitVar	rs121965043
Map	rs121965043
PheGenI	rs121965043
Biobank	rs121965043
1000 genomes	rs121965043
hgdp	rs121965043
ensembl	rs121965043
geneview	rs121965043
scholar	rs121965043
google	rs121965043
pharmgkb	rs121965043
gwascentral	rs121965043
openSNP	rs121965043
23andMe	rs121965043
SNPshot	rs121965043
SNPdbe	rs121965043
MSV3d	rs121965043
GWAS Ctlg	rs121965043

GMAF

0.0009183

Max Magnitude

0

OMIM	613349
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121965043(C;C)
Alt	rs121965043(C;C)
Reference	Rs121965043(T;T)
Significance	Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126086626A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000179.3,