rs759952363

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 rs759952363(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

66086645

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs759952363
dbSNP (classic)	rs759952363
ClinGen	rs759952363
ebi	rs759952363
HLI	rs759952363
Exac	rs759952363
Gnomad	rs759952363
Varsome	rs759952363
LitVar	rs759952363
Map	rs759952363
PheGenI	rs759952363
Biobank	rs759952363
1000 genomes	rs759952363
hgdp	rs759952363
ensembl	rs759952363
geneview	rs759952363
scholar	rs759952363
google	rs759952363
pharmgkb	rs759952363
gwascentral	rs759952363
openSNP	rs759952363
23andMe	rs759952363
SNPshot	rs759952363
SNPdbe	rs759952363
MSV3d	rs759952363
GWAS Ctlg	rs759952363

Max Magnitude

3

c.507G>C, p.Trp169Cys and W169C

ClinVar
Risk	rs759952363(C;C)
Alt	rs759952363(C;C)
Reference	Rs759952363(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	ASL
CLNDBN	not provided
Reversed	0
HGVS	NC_000007.13:g.65551632G>C
CLNSRC
CLNACC	RCV000185761.1,