rs869312993

Orientation

plus

Stabilized

plus

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

Make rs869312993(-;C)

Make rs869312993(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

7

Position

66092065

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs869312993
dbSNP (classic)	rs869312993
ClinGen	rs869312993
ebi	rs869312993
HLI	rs869312993
Exac	rs869312993
Gnomad	rs869312993
Varsome	rs869312993
LitVar	rs869312993
Map	rs869312993
PheGenI	rs869312993
Biobank	rs869312993
1000 genomes	rs869312993
hgdp	rs869312993
ensembl	rs869312993
geneview	rs869312993
scholar	rs869312993
google	rs869312993
pharmgkb	rs869312993
gwascentral	rs869312993
openSNP	rs869312993
23andMe	rs869312993
SNPshot	rs869312993
SNPdbe	rs869312993
MSV3d	rs869312993
GWAS Ctlg	rs869312993

Max Magnitude

0

ClinVar
Risk	rs869312993(C;C)
Alt	rs869312993(C;C)
Reference	Rs869312993(-;-)
Significance	Pathogenic
Disease	Argininosuccinate lyase deficiency
Variation	info
Gene	ASL
CLNDBN	Argininosuccinate lyase deficiency
Reversed	0
HGVS	NC_000007.13:g.65557052dupC
CLNSRC
CLNACC	RCV000210546.1,