rs104893943

Orientation

plus

Stabilized

plus

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

Make rs104893943(G;T)

Make rs104893943(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

131581326

Gene	ARG1, MED23

is a	snp
is	mentioned by
dbSNP	rs104893943
dbSNP (classic)	rs104893943
ClinGen	rs104893943
ebi	rs104893943
HLI	rs104893943
Exac	rs104893943
Gnomad	rs104893943
Varsome	rs104893943
LitVar	rs104893943
Map	rs104893943
PheGenI	rs104893943
Biobank	rs104893943
1000 genomes	rs104893943
hgdp	rs104893943
ensembl	rs104893943
geneview	rs104893943
scholar	rs104893943
google	rs104893943
pharmgkb	rs104893943
gwascentral	rs104893943
openSNP	rs104893943
23andMe	rs104893943
SNPshot	rs104893943
SNPdbe	rs104893943
MSV3d	rs104893943
GWAS Ctlg	rs104893943

Max Magnitude

0

OMIM	608313
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104893943(T;T)
Alt	rs104893943(T;T)
Reference	Rs104893943(G;G)
Significance	Pathogenic
Disease	Arginase deficiency
Variation	info
Gene	MED23 ARG1
CLNDBN	Arginase deficiency
Reversed	0
HGVS	NC_000006.11:g.131902466G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002495.4,