rs28941474

Orientation

plus

Stabilized

plus

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

Make rs28941474(C;C)

Make rs28941474(C;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

131573314

Gene

ARG1

is a	snp
is	mentioned by
dbSNP	rs28941474
dbSNP (classic)	rs28941474
ClinGen	rs28941474
ebi	rs28941474
HLI	rs28941474
Exac	rs28941474
Gnomad	rs28941474
Varsome	rs28941474
LitVar	rs28941474
Map	rs28941474
PheGenI	rs28941474
Biobank	rs28941474
1000 genomes	rs28941474
hgdp	rs28941474
ensembl	rs28941474
geneview	rs28941474
scholar	rs28941474
google	rs28941474
pharmgkb	rs28941474
gwascentral	rs28941474
openSNP	rs28941474
23andMe	rs28941474
SNPshot	rs28941474
SNPdbe	rs28941474
MSV3d	rs28941474
GWAS Ctlg	rs28941474

Max Magnitude

0

OMIM	608313
Desc	ARGININEMIA
Variant	0008
Related	also

ClinVar
Risk	rs28941474(C;C)
Alt	rs28941474(C;C)
Reference	Rs28941474(T;T)
Significance	Pathogenic
Disease	Arginase deficiency
Variation	info
Gene	ARG1
CLNDBN	Arginase deficiency
Reversed	0
HGVS	NC_000006.11:g.131894454T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002494.3,