rs104893948

Orientation

plus

Stabilized

plus

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

Make rs104893948(A;A)

Make rs104893948(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

131583392

Gene	ARG1, MED23

is a	snp
is	mentioned by
dbSNP	rs104893948
dbSNP (classic)	rs104893948
ClinGen	rs104893948
ebi	rs104893948
HLI	rs104893948
Exac	rs104893948
Gnomad	rs104893948
Varsome	rs104893948
LitVar	rs104893948
Map	rs104893948
PheGenI	rs104893948
Biobank	rs104893948
1000 genomes	rs104893948
hgdp	rs104893948
ensembl	rs104893948
geneview	rs104893948
scholar	rs104893948
google	rs104893948
pharmgkb	rs104893948
gwascentral	rs104893948
openSNP	rs104893948
23andMe	rs104893948
SNPshot	rs104893948
SNPdbe	rs104893948
MSV3d	rs104893948
GWAS Ctlg	rs104893948

Max Magnitude

0

OMIM	608313
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104893948(A;A) rs104893948(C;C)
Alt	rs104893948(A;A) rs104893948(C;C)
Reference	Rs104893948(G;G)
Significance	Pathogenic
Disease	not provided Arginase deficiency
Variation	info
Gene	MED23 ARG1
CLNDBN	not provided Arginase deficiency
Reversed	0
HGVS	NC_000006.11:g.131904532G>A; NC_000006.11:g.131904532G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000485579.1, RCV000002492.4,