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rs869312993

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs869312993(-;-)
Make rs869312993(-;C)
Make rs869312993(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position66092065
GeneASL
is asnp
is mentioned by
dbSNPrs869312993
ebirs869312993
HLIrs869312993
Exacrs869312993
Varsomers869312993
Maprs869312993
PheGenIrs869312993
hapmaprs869312993
1000 genomesrs869312993
hgdprs869312993
ensemblrs869312993
gopubmedrs869312993
geneviewrs869312993
scholarrs869312993
googlers869312993
pharmgkbrs869312993
gwascentralrs869312993
openSNPrs869312993
23andMers869312993
23andMe allrs869312993
SNP Nexus

SNPshotrs869312993
SNPdbers869312993
MSV3drs869312993
GWAS Ctlgrs869312993
Max Magnitude0
ClinVar
Risk rs869312993(C;C)
Alt rs869312993(C;C)
Reference rs869312993(;)
Significance Pathogenic
Disease Argininosuccinate lyase deficiency
Variation info
Gene ASL
CLNDBN Argininosuccinate lyase deficiency
Reversed 0
HGVS NC_000007.13:g.65557052dupC
CLNSRC
CLNACC RCV000210546.1,