rs869312976

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;T)	3	Carrier of an argininosuccinic aciduria mutation

Make rs869312976(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

7

Position

66086664

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs869312976
dbSNP (classic)	rs869312976
ClinGen	rs869312976
ebi	rs869312976
HLI	rs869312976
Exac	rs869312976
Gnomad	rs869312976
Varsome	rs869312976
LitVar	rs869312976
Map	rs869312976
PheGenI	rs869312976
Biobank	rs869312976
1000 genomes	rs869312976
hgdp	rs869312976
ensembl	rs869312976
geneview	rs869312976
scholar	rs869312976
google	rs869312976
pharmgkb	rs869312976
gwascentral	rs869312976
openSNP	rs869312976
23andMe	rs869312976
SNPshot	rs869312976
SNPdbe	rs869312976
MSV3d	rs869312976
GWAS Ctlg	rs869312976

Max Magnitude

3

aka c.524+2T>G

ClinVar
Risk	rs869312976(G;G)
Alt	rs869312976(G;G)
Reference	Rs869312976(T;T)
Significance	Pathogenic
Disease	Argininosuccinate lyase deficiency
Variation	info
Gene	ASL
CLNDBN	Argininosuccinate lyase deficiency
Reversed	0
HGVS	NC_000007.13:g.65551651T>G
CLNSRC
CLNACC	RCV000210554.1,