rs869312988

Orientation

plus

Stabilized

plus

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

Make rs869312988(C;C)

Make rs869312988(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

7

Position

66086599

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs869312988
dbSNP (classic)	rs869312988
ClinGen	rs869312988
ebi	rs869312988
HLI	rs869312988
Exac	rs869312988
Gnomad	rs869312988
Varsome	rs869312988
LitVar	rs869312988
Map	rs869312988
PheGenI	rs869312988
Biobank	rs869312988
1000 genomes	rs869312988
hgdp	rs869312988
ensembl	rs869312988
geneview	rs869312988
scholar	rs869312988
google	rs869312988
pharmgkb	rs869312988
gwascentral	rs869312988
openSNP	rs869312988
23andMe	rs869312988
SNPshot	rs869312988
SNPdbe	rs869312988
MSV3d	rs869312988
GWAS Ctlg	rs869312988

Max Magnitude

0

ClinVar
Risk	rs869312988(C;C)
Alt	rs869312988(C;C)
Reference	Rs869312988(T;T)
Significance	Pathogenic
Disease	Argininosuccinate lyase deficiency
Variation	info
Gene	ASL
CLNDBN	Argininosuccinate lyase deficiency
Reversed	0
HGVS	NC_000007.13:g.65551586T>C
CLNSRC
CLNACC	RCV000210597.1,