rs796051930

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	3	Unaffected carrier of a possible argininosuccinate lyase mutation
(G;G)	0	common in clinvar

Make rs796051930(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

66092886

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs796051930
dbSNP (classic)	rs796051930
ClinGen	rs796051930
ebi	rs796051930
HLI	rs796051930
Exac	rs796051930
Gnomad	rs796051930
Varsome	rs796051930
LitVar	rs796051930
Map	rs796051930
PheGenI	rs796051930
Biobank	rs796051930
1000 genomes	rs796051930
hgdp	rs796051930
ensembl	rs796051930
geneview	rs796051930
scholar	rs796051930
google	rs796051930
pharmgkb	rs796051930
gwascentral	rs796051930
openSNP	rs796051930
23andMe	rs796051930
SNPshot	rs796051930
SNPdbe	rs796051930
MSV3d	rs796051930
GWAS Ctlg	rs796051930

Max Magnitude

3

c.1369G>C, p.Ala457Pro and A457P

ClinVar
Risk	rs796051930(C;C)
Alt	rs796051930(C;C)
Reference	Rs796051930(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	ASL
CLNDBN	not provided
Reversed	0
HGVS	NC_000007.13:g.65557873G>C
CLNSRC
CLNACC	RCV000185774.1,