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rs796051927

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 Unaffected carrier of a possible argininosuccinate lyase mutation
(T;T) 0 common in clinvar


Make rs796051927(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position66092660
GeneASL
is asnp
is mentioned by
dbSNPrs796051927
ebirs796051927
HLIrs796051927
Exacrs796051927
Varsomers796051927
Maprs796051927
PheGenIrs796051927
hapmaprs796051927
1000 genomesrs796051927
hgdprs796051927
ensemblrs796051927
gopubmedrs796051927
geneviewrs796051927
scholarrs796051927
googlers796051927
pharmgkbrs796051927
gwascentralrs796051927
openSNPrs796051927
23andMers796051927
23andMe allrs796051927
SNP Nexus

SNPshotrs796051927
SNPdbers796051927
MSV3drs796051927
GWAS Ctlgrs796051927
Max Magnitude3

c.1247T>C, p.Ile416Thr or I416T

ClinVar
Risk rs796051927(C;C)
Alt rs796051927(C;C)
Reference rs796051927(T;T)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene ASL
CLNDBN not provided
Reversed 0
HGVS NC_000007.13:g.65557647T>C
CLNSRC
CLNACC RCV000185771.1,