rs104893942

Orientation

plus

Stabilized

plus

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

Make rs104893942(C;G)

Make rs104893942(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

131583808

Gene	ARG1, MED23

is a	snp
is	mentioned by
dbSNP	rs104893942
dbSNP (classic)	rs104893942
ClinGen	rs104893942
ebi	rs104893942
HLI	rs104893942
Exac	rs104893942
Gnomad	rs104893942
Varsome	rs104893942
LitVar	rs104893942
Map	rs104893942
PheGenI	rs104893942
Biobank	rs104893942
1000 genomes	rs104893942
hgdp	rs104893942
ensembl	rs104893942
geneview	rs104893942
scholar	rs104893942
google	rs104893942
pharmgkb	rs104893942
gwascentral	rs104893942
openSNP	rs104893942
23andMe	rs104893942
SNPshot	rs104893942
SNPdbe	rs104893942
MSV3d	rs104893942
GWAS Ctlg	rs104893942

Max Magnitude

0

OMIM	608313
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104893942(G;G)
Alt	rs104893942(G;G)
Reference	Rs104893942(C;C)
Significance	Pathogenic
Disease	Arginase deficiency
Variation	info
Gene	MED23 ARG1
CLNDBN	Arginase deficiency
Reversed	0
HGVS	NC_000006.11:g.131904948C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002490.2,