Have questions? Visit https://www.reddit.com/r/SNPedia

rs769506424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8 Argininosuccinate lyase deficiency
(A;G) 3 Unaffected carrier of one bad argininosuccinate lyase allele
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position66089282
GeneASL
is asnp
is mentioned by
dbSNPrs769506424
ebirs769506424
HLIrs769506424
Exacrs769506424
Varsomers769506424
Maprs769506424
PheGenIrs769506424
hapmaprs769506424
1000 genomesrs769506424
hgdprs769506424
ensemblrs769506424
gopubmedrs769506424
geneviewrs769506424
scholarrs769506424
googlers769506424
pharmgkbrs769506424
gwascentralrs769506424
openSNPrs769506424
23andMers769506424
23andMe allrs769506424
SNP Nexus

SNPshotrs769506424
SNPdbers769506424
MSV3drs769506424
GWAS Ctlgrs769506424
Max Magnitude8

c.925G>A, p.Gly309Arg or G309R

ClinVar
Risk rs769506424(A;A)
Alt rs769506424(A;A)
Reference rs769506424(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene ASL
CLNDBN not provided
Reversed 0
HGVS NC_000007.13:g.65554269G>A
CLNSRC
CLNACC RCV000185767.1,