rs121965037

Orientation

minus

Stabilized

minus

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

Make rs121965037(C;C)

Make rs121965037(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124412009

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs121965037
dbSNP (classic)	rs121965037
ClinGen	rs121965037
ebi	rs121965037
HLI	rs121965037
Exac	rs121965037
Gnomad	rs121965037
Varsome	rs121965037
LitVar	rs121965037
Map	rs121965037
PheGenI	rs121965037
Biobank	rs121965037
1000 genomes	rs121965037
hgdp	rs121965037
ensembl	rs121965037
geneview	rs121965037
scholar	rs121965037
google	rs121965037
pharmgkb	rs121965037
gwascentral	rs121965037
openSNP	rs121965037
23andMe	rs121965037
SNPshot	rs121965037
SNPdbe	rs121965037
MSV3d	rs121965037
GWAS Ctlg	rs121965037

Max Magnitude

0

OMIM	613349
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121965037(C;C)
Alt	rs121965037(C;C)
Reference	Rs121965037(T;T)
Significance	Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126100578A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000173.2,