rs869312992

Orientation

plus

Stabilized

plus

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

Make rs869312992(C;T)

Make rs869312992(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

7

Position

66089146

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs869312992
dbSNP (classic)	rs869312992
ClinGen	rs869312992
ebi	rs869312992
HLI	rs869312992
Exac	rs869312992
Gnomad	rs869312992
Varsome	rs869312992
LitVar	rs869312992
Map	rs869312992
PheGenI	rs869312992
Biobank	rs869312992
1000 genomes	rs869312992
hgdp	rs869312992
ensembl	rs869312992
geneview	rs869312992
scholar	rs869312992
google	rs869312992
pharmgkb	rs869312992
gwascentral	rs869312992
openSNP	rs869312992
23andMe	rs869312992
SNPshot	rs869312992
SNPdbe	rs869312992
MSV3d	rs869312992
GWAS Ctlg	rs869312992

Max Magnitude

0

ClinVar
Risk	rs869312992(T;T)
Alt	rs869312992(T;T)
Reference	Rs869312992(C;C)
Significance	Pathogenic
Disease	Argininosuccinate lyase deficiency
Variation	info
Gene	ASL
CLNDBN	Argininosuccinate lyase deficiency
Reversed	0
HGVS	NC_000007.13:g.65554133C>T
CLNSRC
CLNACC	RCV000210677.1,