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rs875989948

From SNPedia

Orientationplus
Stabilizedplus
Make rs875989948(C;C)
Make rs875989948(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position66092022
GeneASL
is asnp
is mentioned by
dbSNPrs875989948
dbSNP (classic)rs875989948
ClinGenrs875989948
ebirs875989948
HLIrs875989948
Exacrs875989948
Gnomadrs875989948
Varsomers875989948
LitVarrs875989948
Maprs875989948
PheGenIrs875989948
Biobankrs875989948
1000 genomesrs875989948
hgdprs875989948
ensemblrs875989948
geneviewrs875989948
scholarrs875989948
googlers875989948
pharmgkbrs875989948
gwascentralrs875989948
openSNPrs875989948
23andMers875989948
SNPshotrs875989948
SNPdbers875989948
MSV3drs875989948
GWAS Ctlgrs875989948
Max Magnitude0
ClinVar
Risk rs875989948(C;C)
Alt rs875989948(C;C)
Reference Rs875989948(T;T)
Significance Pathogenic
Disease Argininosuccinate lyase deficiency
Variation info
Gene ASL
CLNDBN Argininosuccinate lyase deficiency
Reversed 0
HGVS NC_000007.13:g.65557009T>C
CLNSRC
CLNACC RCV000211672.1,