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rs869312991

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312991(A;A)
Make rs869312991(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position66088850
GeneASL
is asnp
is mentioned by
dbSNPrs869312991
dbSNP (classic)rs869312991
ClinGenrs869312991
ebirs869312991
HLIrs869312991
Exacrs869312991
Gnomadrs869312991
Varsomers869312991
LitVarrs869312991
Maprs869312991
PheGenIrs869312991
Biobankrs869312991
1000 genomesrs869312991
hgdprs869312991
ensemblrs869312991
geneviewrs869312991
scholarrs869312991
googlers869312991
pharmgkbrs869312991
gwascentralrs869312991
openSNPrs869312991
23andMers869312991
SNPshotrs869312991
SNPdbers869312991
MSV3drs869312991
GWAS Ctlgrs869312991
Max Magnitude0
ClinVar
Risk rs869312991(A;A)
Alt rs869312991(A;A)
Reference Rs869312991(C;C)
Significance Pathogenic
Disease Argininosuccinate lyase deficiency
Variation info
Gene ASL
CLNDBN Argininosuccinate lyase deficiency
Reversed 0
HGVS NC_000007.13:g.65553837C>A
CLNSRC
CLNACC RCV000210606.1,