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rs369879957

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Unaffected carrier of one bad argininosuccinate lyase allele
(T;T) 8 Argininosuccinate lyase deficiency
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position66087380
GeneASL
is asnp
is mentioned by
dbSNPrs369879957
ebirs369879957
HLIrs369879957
Exacrs369879957
Varsomers369879957
Maprs369879957
PheGenIrs369879957
hapmaprs369879957
1000 genomesrs369879957
hgdprs369879957
ensemblrs369879957
gopubmedrs369879957
geneviewrs369879957
scholarrs369879957
googlers369879957
pharmgkbrs369879957
gwascentralrs369879957
openSNPrs369879957
23andMers369879957
23andMe allrs369879957
SNP Nexus

SNPshotrs369879957
SNPdbers369879957
MSV3drs369879957
GWAS Ctlgrs369879957
Max Magnitude8

c.649C>T, p.Arg217Ter or R217X

ClinVar
Risk rs369879957(T;T)
Alt rs369879957(T;T)
Reference rs369879957(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene ASL
CLNDBN not provided
Reversed 0
HGVS NC_000007.13:g.65552367C>T
CLNSRC
CLNACC RCV000185765.2,