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

rs796051931

From SNPedia

Orientationplus
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 38.2/146
Chromosome7
Position66083165
GeneASL
is asnp
is mentioned by
dbSNPrs796051931
ebirs796051931
HLIrs796051931
Exacrs796051931
Varsomers796051931
Maprs796051931
PheGenIrs796051931
hapmaprs796051931
1000 genomesrs796051931
hgdprs796051931
ensemblrs796051931
gopubmedrs796051931
geneviewrs796051931
scholarrs796051931
googlers796051931
pharmgkbrs796051931
gwascentralrs796051931
openSNPrs796051931
23andMers796051931
23andMe allrs796051931
SNP Nexus

SNPshotrs796051931
SNPdbers796051931
MSV3drs796051931
GWAS Ctlgrs796051931
Max Magnitude8

c.437G>A, p.Arg146Gln or R146Q

ClinVar
Risk rs796051931(A;A)
Alt rs796051931(A;A)
Reference rs796051931(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene ASL
CLNDBN not provided
Reversed 0
HGVS NC_000007.13:g.65548152G>A
CLNSRC
CLNACC RCV000185778.1,