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rs869312976

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 3 Carrier of an argininosuccinic aciduria mutation


Make rs869312976(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position66086664
GeneASL
is asnp
is mentioned by
dbSNPrs869312976
dbSNP (classic)rs869312976
ClinGenrs869312976
ebirs869312976
HLIrs869312976
Exacrs869312976
Gnomadrs869312976
Varsomers869312976
LitVarrs869312976
Maprs869312976
PheGenIrs869312976
Biobankrs869312976
1000 genomesrs869312976
hgdprs869312976
ensemblrs869312976
geneviewrs869312976
scholarrs869312976
googlers869312976
pharmgkbrs869312976
gwascentralrs869312976
openSNPrs869312976
23andMers869312976
SNPshotrs869312976
SNPdbers869312976
MSV3drs869312976
GWAS Ctlgrs869312976
Max Magnitude3

aka c.524+2T>G

ClinVar
Risk rs869312976(G;G)
Alt rs869312976(G;G)
Reference Rs869312976(T;T)
Significance Pathogenic
Disease Argininosuccinate lyase deficiency
Variation info
Gene ASL
CLNDBN Argininosuccinate lyase deficiency
Reversed 0
HGVS NC_000007.13:g.65551651T>G
CLNSRC
CLNACC RCV000210554.1,