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rs869312992

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312992(C;T)
Make rs869312992(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position66089146
GeneASL
is asnp
is mentioned by
dbSNPrs869312992
ebirs869312992
HLIrs869312992
Exacrs869312992
Varsomers869312992
Maprs869312992
PheGenIrs869312992
hapmaprs869312992
1000 genomesrs869312992
hgdprs869312992
ensemblrs869312992
gopubmedrs869312992
geneviewrs869312992
scholarrs869312992
googlers869312992
pharmgkbrs869312992
gwascentralrs869312992
openSNPrs869312992
23andMers869312992
23andMe allrs869312992
SNP Nexus

SNPshotrs869312992
SNPdbers869312992
MSV3drs869312992
GWAS Ctlgrs869312992
Max Magnitude0
ClinVar
Risk rs869312992(T;T)
Alt rs869312992(T;T)
Reference rs869312992(C;C)
Significance Pathogenic
Disease Argininosuccinate lyase deficiency
Variation info
Gene ASL
CLNDBN Argininosuccinate lyase deficiency
Reversed 0
HGVS NC_000007.13:g.65554133C>T
CLNSRC
CLNACC RCV000210677.1,