rs121965049

Orientation

minus

Stabilized

minus

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

Make rs121965049(C;T)

Make rs121965049(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124401785

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs121965049
dbSNP (classic)	rs121965049
ClinGen	rs121965049
ebi	rs121965049
HLI	rs121965049
Exac	rs121965049
Gnomad	rs121965049
Varsome	rs121965049
LitVar	rs121965049
Map	rs121965049
PheGenI	rs121965049
Biobank	rs121965049
1000 genomes	rs121965049
hgdp	rs121965049
ensembl	rs121965049
geneview	rs121965049
scholar	rs121965049
google	rs121965049
pharmgkb	rs121965049
gwascentral	rs121965049
openSNP	rs121965049
23andMe	rs121965049
SNPshot	rs121965049
SNPdbe	rs121965049
MSV3d	rs121965049
GWAS Ctlg	rs121965049

Max Magnitude

0

OMIM	613349
Desc
Variant	0020
Related	also

ClinVar
Risk	rs121965049(T;T)
Alt	rs121965049(T;T)
Reference	Rs121965049(C;C)
Significance	Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126090354G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000187.2,