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rs398123127

From SNPedia

Orientationplus
Stabilizedplus
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 38.1/141
Chromosome7
Position66086822
GeneASL
is asnp
is mentioned by
dbSNPrs398123127
ebirs398123127
HLIrs398123127
Exacrs398123127
Varsomers398123127
Maprs398123127
PheGenIrs398123127
hapmaprs398123127
1000 genomesrs398123127
hgdprs398123127
ensemblrs398123127
gopubmedrs398123127
geneviewrs398123127
scholarrs398123127
googlers398123127
pharmgkbrs398123127
gwascentralrs398123127
openSNPrs398123127
23andMers398123127
23andMe allrs398123127
SNP Nexus

SNPshotrs398123127
SNPdbers398123127
MSV3drs398123127
GWAS Ctlgrs398123127
Max Magnitude8

c.602+1G>A

ClinVar
Risk rs398123127(A;A)
Alt rs398123127(A;A)
Reference rs398123127(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene ASL
CLNDBN not provided
Reversed 0
HGVS NC_000007.13:g.65551809G>A
CLNSRC ClinVar
CLNACC RCV000078015.4,