rs201523601

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

66082452

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs201523601
dbSNP (classic)	rs201523601
ClinGen	rs201523601
ebi	rs201523601
HLI	rs201523601
Exac	rs201523601
Gnomad	rs201523601
Varsome	rs201523601
LitVar	rs201523601
Map	rs201523601
PheGenI	rs201523601
Biobank	rs201523601
1000 genomes	rs201523601
hgdp	rs201523601
ensembl	rs201523601
geneview	rs201523601
scholar	rs201523601
google	rs201523601
pharmgkb	rs201523601
gwascentral	rs201523601
openSNP	rs201523601
23andMe	rs201523601
SNPshot	rs201523601
SNPdbe	rs201523601
MSV3d	rs201523601
GWAS Ctlg	rs201523601

Max Magnitude

8

c.291+1G>T

ClinVar
Risk	Rs201523601(T;T)
Alt	Rs201523601(T;T)
Reference	Rs201523601(G;G)
Significance	Probable-Pathogenic
Disease	Argininosuccinate lyase deficiency
Variation	info
Gene	ASL
CLNDBN	Argininosuccinate lyase deficiency
Reversed	0
HGVS	NC_000007.13:g.65547439G>T
CLNSRC
CLNACC	RCV000411012.1,