rs121965058

Orientation

minus

Stabilized

minus

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

Make rs121965058(C;T)

Make rs121965058(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124397986

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs121965058
dbSNP (classic)	rs121965058
ClinGen	rs121965058
ebi	rs121965058
HLI	rs121965058
Exac	rs121965058
Gnomad	rs121965058
Varsome	rs121965058
LitVar	rs121965058
Map	rs121965058
PheGenI	rs121965058
Biobank	rs121965058
1000 genomes	rs121965058
hgdp	rs121965058
ensembl	rs121965058
geneview	rs121965058
scholar	rs121965058
google	rs121965058
pharmgkb	rs121965058
gwascentral	rs121965058
openSNP	rs121965058
23andMe	rs121965058
SNPshot	rs121965058
SNPdbe	rs121965058
MSV3d	rs121965058
GWAS Ctlg	rs121965058

Max Magnitude

0

OMIM	613349
Desc
Variant	0034
Related	also

ClinVar
Risk	rs121965058(T;T)
Alt	rs121965058(T;T)
Reference	Rs121965058(C;C)
Significance	Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126086555G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000200.2,