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rs770167670

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 8 Argininosuccinate lyase deficiency
(A;C) 3 Unaffected carrier of one bad argininosuccinate lyase allele
(C;C) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position66092606
GeneASL
is asnp
is mentioned by
dbSNPrs770167670
ebirs770167670
HLIrs770167670
Exacrs770167670
Varsomers770167670
Maprs770167670
PheGenIrs770167670
hapmaprs770167670
1000 genomesrs770167670
hgdprs770167670
ensemblrs770167670
gopubmedrs770167670
geneviewrs770167670
scholarrs770167670
googlers770167670
pharmgkbrs770167670
gwascentralrs770167670
openSNPrs770167670
23andMers770167670
23andMe allrs770167670
SNP Nexus

SNPshotrs770167670
SNPdbers770167670
MSV3drs770167670
GWAS Ctlgrs770167670
Max Magnitude8

c.1193C>A, p.Ala398Asp or A398D

ClinVar
Risk rs770167670(A;A)
Alt rs770167670(A;A)
Reference rs770167670(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene ASL
CLNDBN not provided
Reversed 0
HGVS NC_000007.13:g.65557593C>A
CLNSRC
CLNACC RCV000185770.1,