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rs869312987

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312987(-;-)
Make rs869312987(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position66082880
GeneASL
is asnp
is mentioned by
dbSNPrs869312987
dbSNP (classic)rs869312987
ClinGenrs869312987
ebirs869312987
HLIrs869312987
Exacrs869312987
Gnomadrs869312987
Varsomers869312987
LitVarrs869312987
Maprs869312987
PheGenIrs869312987
Biobankrs869312987
1000 genomesrs869312987
hgdprs869312987
ensemblrs869312987
geneviewrs869312987
scholarrs869312987
googlers869312987
pharmgkbrs869312987
gwascentralrs869312987
openSNPrs869312987
23andMers869312987
SNPshotrs869312987
SNPdbers869312987
MSV3drs869312987
GWAS Ctlgrs869312987
Max Magnitude0
ClinVar
Risk rs869312987(-;-)
Alt rs869312987(-;-)
Reference Rs869312987(G;G)
Significance Pathogenic
Disease Argininosuccinate lyase deficiency
Variation info
Gene ASL
CLNDBN Argininosuccinate lyase deficiency
Reversed 0
HGVS NC_000007.13:g.65547867delG
CLNSRC
CLNACC RCV000210718.1,