rs104893940

Orientation

plus

Stabilized

plus

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

Make rs104893940(C;T)

Make rs104893940(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

131583810

Gene	ARG1, MED23

is a	snp
is	mentioned by
dbSNP	rs104893940
dbSNP (classic)	rs104893940
ClinGen	rs104893940
ebi	rs104893940
HLI	rs104893940
Exac	rs104893940
Gnomad	rs104893940
Varsome	rs104893940
LitVar	rs104893940
Map	rs104893940
PheGenI	rs104893940
Biobank	rs104893940
1000 genomes	rs104893940
hgdp	rs104893940
ensembl	rs104893940
geneview	rs104893940
scholar	rs104893940
google	rs104893940
pharmgkb	rs104893940
gwascentral	rs104893940
openSNP	rs104893940
23andMe	rs104893940
SNPshot	rs104893940
SNPdbe	rs104893940
MSV3d	rs104893940
GWAS Ctlg	rs104893940

Max Magnitude

0

OMIM	608313
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104893940(T;T)
Alt	rs104893940(T;T)
Reference	Rs104893940(C;C)
Significance	Pathogenic
Disease	Arginase deficiency
Variation	info
Gene	MED23 ARG1
CLNDBN	Arginase deficiency
Reversed	0
HGVS	NC_000006.11:g.131904950C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002489.2,