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rs869312989

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs869312989(-;-)
Make rs869312989(-;AGCGGA)
Make rs869312989(AGCGGA;AGCGGA)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position66086799
GeneASL
is asnp
is mentioned by
dbSNPrs869312989
ebirs869312989
HLIrs869312989
Exacrs869312989
Varsomers869312989
Maprs869312989
PheGenIrs869312989
hapmaprs869312989
1000 genomesrs869312989
hgdprs869312989
ensemblrs869312989
gopubmedrs869312989
geneviewrs869312989
scholarrs869312989
googlers869312989
pharmgkbrs869312989
gwascentralrs869312989
openSNPrs869312989
23andMers869312989
23andMe allrs869312989
SNP Nexus

SNPshotrs869312989
SNPdbers869312989
MSV3drs869312989
GWAS Ctlgrs869312989
Max Magnitude0
ClinVar
Risk rs869312989(GCGGAA;GCGGAA)
Alt rs869312989(GCGGAA;GCGGAA)
Reference rs869312989(;)
Significance Pathogenic
Disease Argininosuccinate lyase deficiency
Variation info
Gene ASL
CLNDBN Argininosuccinate lyase deficiency
Reversed 0
HGVS NC_000007.13:g.65551781_65551786dupAGCGGA
CLNSRC
CLNACC RCV000210669.1,