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rs201523601

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Unaffected carrier of one bad argininosuccinate lyase allele
(T;T) 8 Argininosuccinate lyase deficiency
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position66082452
GeneASL
is asnp
is mentioned by
dbSNPrs201523601
dbSNP (old)rs201523601
ClinGenrs201523601
ebirs201523601
HLIrs201523601
Exacrs201523601
Varsomers201523601
Maprs201523601
PheGenIrs201523601
Biobankrs201523601
1000 genomesrs201523601
hgdprs201523601
ensemblrs201523601
gopubmedrs201523601
geneviewrs201523601
scholarrs201523601
googlers201523601
pharmgkbrs201523601
gwascentralrs201523601
openSNPrs201523601
23andMers201523601
23andMe allrs201523601
SNP Nexus

SNPshotrs201523601
SNPdbers201523601
MSV3drs201523601
GWAS Ctlgrs201523601
Max Magnitude8

c.291+1G>T

ClinVar
Risk Rs201523601(T;T)
Alt Rs201523601(T;T)
Reference Rs201523601(G;G)
Significance Probable-Pathogenic
Disease Argininosuccinate lyase deficiency
Variation info
Gene ASL
CLNDBN Argininosuccinate lyase deficiency
Reversed 0
HGVS NC_000007.13:g.65547439G>T
CLNSRC
CLNACC RCV000411012.1,