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rs759952363

From SNPedia

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


Make rs759952363(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position66086645
GeneASL
is asnp
is mentioned by
dbSNPrs759952363
ebirs759952363
HLIrs759952363
Exacrs759952363
Varsomers759952363
Maprs759952363
PheGenIrs759952363
hapmaprs759952363
1000 genomesrs759952363
hgdprs759952363
ensemblrs759952363
gopubmedrs759952363
geneviewrs759952363
scholarrs759952363
googlers759952363
pharmgkbrs759952363
gwascentralrs759952363
openSNPrs759952363
23andMers759952363
23andMe allrs759952363
SNP Nexus

SNPshotrs759952363
SNPdbers759952363
MSV3drs759952363
GWAS Ctlgrs759952363
Max Magnitude3

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,