rs104893947

Orientation

plus

Stabilized

plus

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

Make rs104893947(A;A)

Make rs104893947(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

131581278

Gene	ARG1, MED23

is a	snp
is	mentioned by
dbSNP	rs104893947
dbSNP (classic)	rs104893947
ClinGen	rs104893947
ebi	rs104893947
HLI	rs104893947
Exac	rs104893947
Gnomad	rs104893947
Varsome	rs104893947
LitVar	rs104893947
Map	rs104893947
PheGenI	rs104893947
Biobank	rs104893947
1000 genomes	rs104893947
hgdp	rs104893947
ensembl	rs104893947
geneview	rs104893947
scholar	rs104893947
google	rs104893947
pharmgkb	rs104893947
gwascentral	rs104893947
openSNP	rs104893947
23andMe	rs104893947
SNPshot	rs104893947
SNPdbe	rs104893947
MSV3d	rs104893947
GWAS Ctlg	rs104893947

Max Magnitude

0

OMIM	608313
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104893947(A;A)
Alt	rs104893947(A;A)
Reference	Rs104893947(G;G)
Significance	Pathogenic
Disease	Arginase deficiency not provided
Variation	info
Gene	MED23 ARG1
CLNDBN	Arginase deficiency not provided
Reversed	0
HGVS	NC_000006.11:g.131902418G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002491.4, RCV000480650.1,