rs121965053

Orientation

minus

Stabilized

minus

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

Make rs121965053(A;A)

Make rs121965053(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124400941

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs121965053
dbSNP (classic)	rs121965053
ClinGen	rs121965053
ebi	rs121965053
HLI	rs121965053
Exac	rs121965053
Gnomad	rs121965053
Varsome	rs121965053
LitVar	rs121965053
Map	rs121965053
PheGenI	rs121965053
Biobank	rs121965053
1000 genomes	rs121965053
hgdp	rs121965053
ensembl	rs121965053
geneview	rs121965053
scholar	rs121965053
google	rs121965053
pharmgkb	rs121965053
gwascentral	rs121965053
openSNP	rs121965053
23andMe	rs121965053
SNPshot	rs121965053
SNPdbe	rs121965053
MSV3d	rs121965053
GWAS Ctlg	rs121965053

Max Magnitude

0

OMIM	613349
Desc
Variant	0027
Related	also

ClinVar
Risk	rs121965053(A;A)
Alt	rs121965053(A;A)
Reference	Rs121965053(G;G)
Significance	Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126089510C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000193.2,