rs869312994

Orientation

plus

Stabilized

plus

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

Make rs869312994(C;T)

Make rs869312994(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

7

Position

66092877

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs869312994
dbSNP (classic)	rs869312994
ClinGen	rs869312994
ebi	rs869312994
HLI	rs869312994
Exac	rs869312994
Gnomad	rs869312994
Varsome	rs869312994
LitVar	rs869312994
Map	rs869312994
PheGenI	rs869312994
Biobank	rs869312994
1000 genomes	rs869312994
hgdp	rs869312994
ensembl	rs869312994
geneview	rs869312994
scholar	rs869312994
google	rs869312994
pharmgkb	rs869312994
gwascentral	rs869312994
openSNP	rs869312994
23andMe	rs869312994
SNPshot	rs869312994
SNPdbe	rs869312994
MSV3d	rs869312994
GWAS Ctlg	rs869312994

Max Magnitude

0

ClinVar
Risk	rs869312994(T;T)
Alt	rs869312994(T;T)
Reference	Rs869312994(C;C)
Significance	Pathogenic
Disease	Argininosuccinate lyase deficiency
Variation	info
Gene	ASL
CLNDBN	Argininosuccinate lyase deficiency
Reversed	0
HGVS	NC_000007.13:g.65557864C>T
CLNSRC
CLNACC	RCV000210614.1,