rs398123127

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	8	Argininosuccinate lyase deficiency
(A;G)	3	Unaffected carrier of one bad argininosuccinate lyase allele
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

7

Position

66086822

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs398123127
dbSNP (classic)	rs398123127
ClinGen	rs398123127
ebi	rs398123127
HLI	rs398123127
Exac	rs398123127
Gnomad	rs398123127
Varsome	rs398123127
LitVar	rs398123127
Map	rs398123127
PheGenI	rs398123127
Biobank	rs398123127
1000 genomes	rs398123127
hgdp	rs398123127
ensembl	rs398123127
geneview	rs398123127
scholar	rs398123127
google	rs398123127
pharmgkb	rs398123127
gwascentral	rs398123127
openSNP	rs398123127
23andMe	rs398123127
SNPshot	rs398123127
SNPdbe	rs398123127
MSV3d	rs398123127
GWAS Ctlg	rs398123127

Max Magnitude

8

c.602+1G>A

ClinVar
Risk	Rs398123127(A;A)
Alt	Rs398123127(A;A)
Reference	Rs398123127(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ASL
CLNDBN	not provided
Reversed	0
HGVS	NC_000007.13:g.65551809G>A
CLNSRC	ClinVar
CLNACC	RCV000078015.4,