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rs796051930

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 rs796051930(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position66092886
GeneASL
is asnp
is mentioned by
dbSNPrs796051930
ebirs796051930
HLIrs796051930
Exacrs796051930
Varsomers796051930
Maprs796051930
PheGenIrs796051930
hapmaprs796051930
1000 genomesrs796051930
hgdprs796051930
ensemblrs796051930
gopubmedrs796051930
geneviewrs796051930
scholarrs796051930
googlers796051930
pharmgkbrs796051930
gwascentralrs796051930
openSNPrs796051930
23andMers796051930
23andMe allrs796051930
SNP Nexus

SNPshotrs796051930
SNPdbers796051930
MSV3drs796051930
GWAS Ctlgrs796051930
Max Magnitude3

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,