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rs869312994

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312994(C;T)
Make rs869312994(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position66092877
GeneASL
is asnp
is mentioned by
dbSNPrs869312994
ebirs869312994
HLIrs869312994
Exacrs869312994
Varsomers869312994
Maprs869312994
PheGenIrs869312994
hapmaprs869312994
1000 genomesrs869312994
hgdprs869312994
ensemblrs869312994
gopubmedrs869312994
geneviewrs869312994
scholarrs869312994
googlers869312994
pharmgkbrs869312994
gwascentralrs869312994
openSNPrs869312994
23andMers869312994
23andMe allrs869312994
SNP Nexus

SNPshotrs869312994
SNPdbers869312994
MSV3drs869312994
GWAS Ctlgrs869312994
Max Magnitude0
ClinVar
Risk rs869312994(T;T)
Alt rs869312994(T;T)
Reference rs869312994(C;C)
Significance Pathogenic
Disease Argininosuccinate lyase deficiency
Variation info
Gene ASL
CLNDBN Argininosuccinate lyase deficiency
Reversed 0
HGVS NC_000007.13:g.65557864C>T
CLNSRC
CLNACC RCV000210614.1,