rs121965047

Orientation

minus

Stabilized

minus

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

Make rs121965047(A;A)

Make rs121965047(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124401746

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs121965047
dbSNP (classic)	rs121965047
ClinGen	rs121965047
ebi	rs121965047
HLI	rs121965047
Exac	rs121965047
Gnomad	rs121965047
Varsome	rs121965047
LitVar	rs121965047
Map	rs121965047
PheGenI	rs121965047
Biobank	rs121965047
1000 genomes	rs121965047
hgdp	rs121965047
ensembl	rs121965047
geneview	rs121965047
scholar	rs121965047
google	rs121965047
pharmgkb	rs121965047
gwascentral	rs121965047
openSNP	rs121965047
23andMe	rs121965047
SNPshot	rs121965047
SNPdbe	rs121965047
MSV3d	rs121965047
GWAS Ctlg	rs121965047

Max Magnitude

0

OMIM	613349
Desc
Variant	0018
Related	also

ClinVar
Risk	rs121965047(A;A)
Alt	rs121965047(A;A)
Reference	Rs121965047(G;G)
Significance	Pathogenic
Disease	Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126090315C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000185.2, RCV000049551.1,

[PMID 23076989] Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.