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rs796051928

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Unaffected carrier of one bad argininosuccinate lyase allele
(C;C) 8 Argininosuccinate lyase deficiency
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position66092814
GeneASL
is asnp
is mentioned by
dbSNPrs796051928
ebirs796051928
HLIrs796051928
Exacrs796051928
Varsomers796051928
Maprs796051928
PheGenIrs796051928
hapmaprs796051928
1000 genomesrs796051928
hgdprs796051928
ensemblrs796051928
gopubmedrs796051928
geneviewrs796051928
scholarrs796051928
googlers796051928
pharmgkbrs796051928
gwascentralrs796051928
openSNPrs796051928
23andMers796051928
23andMe allrs796051928
SNP Nexus

SNPshotrs796051928
SNPdbers796051928
MSV3drs796051928
GWAS Ctlgrs796051928
Max Magnitude8

c.1297A>C, p.Ser433Arg or S433R

ClinVar
Risk rs796051928(C;C)
Alt rs796051928(C;C)
Reference rs796051928(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene ASL
CLNDBN not provided
Reversed 0
HGVS NC_000007.13:g.65557801A>C
CLNSRC
CLNACC RCV000185772.1,