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rs869312986

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312986(A;C)
Make rs869312986(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position66082417
GeneASL
is asnp
is mentioned by
dbSNPrs869312986
ebirs869312986
HLIrs869312986
Exacrs869312986
Varsomers869312986
Maprs869312986
PheGenIrs869312986
hapmaprs869312986
1000 genomesrs869312986
hgdprs869312986
ensemblrs869312986
gopubmedrs869312986
geneviewrs869312986
scholarrs869312986
googlers869312986
pharmgkbrs869312986
gwascentralrs869312986
openSNPrs869312986
23andMers869312986
23andMe allrs869312986
SNP Nexus

SNPshotrs869312986
SNPdbers869312986
MSV3drs869312986
GWAS Ctlgrs869312986
Max Magnitude0
ClinVar
Risk rs869312986(C;C)
Alt rs869312986(C;C)
Reference rs869312986(A;A)
Significance Pathogenic
Disease Argininosuccinate lyase deficiency
Variation info
Gene ASL
CLNDBN Argininosuccinate lyase deficiency
Reversed 0
HGVS NC_000007.13:g.65547404A>C
CLNSRC
CLNACC RCV000210647.1,