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rs869312988

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312988(C;C)
Make rs869312988(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position66086599
GeneASL
is asnp
is mentioned by
dbSNPrs869312988
ebirs869312988
HLIrs869312988
Exacrs869312988
Varsomers869312988
Maprs869312988
PheGenIrs869312988
hapmaprs869312988
1000 genomesrs869312988
hgdprs869312988
ensemblrs869312988
gopubmedrs869312988
geneviewrs869312988
scholarrs869312988
googlers869312988
pharmgkbrs869312988
gwascentralrs869312988
openSNPrs869312988
23andMers869312988
23andMe allrs869312988
SNP Nexus

SNPshotrs869312988
SNPdbers869312988
MSV3drs869312988
GWAS Ctlgrs869312988
Max Magnitude0
ClinVar
Risk rs869312988(C;C)
Alt rs869312988(C;C)
Reference rs869312988(T;T)
Significance Pathogenic
Disease Argininosuccinate lyase deficiency
Variation info
Gene ASL
CLNDBN Argininosuccinate lyase deficiency
Reversed 0
HGVS NC_000007.13:g.65551586T>C
CLNSRC
CLNACC RCV000210597.1,