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rs796051933

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GTCATCTCTACGC) 3 Unaffected carrier of one bad argininosuccinate lyase allele
(GCGTCATCTCTAC;GCGTCATCTCTAC) 0 common in clinvar
Make rs796051933(-;-)
Make rs796051933(GTCATCTCTACGC;GTCATCTCTACGC)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position66089678
GeneASL
is asnp
is mentioned by
dbSNPrs796051933
ebirs796051933
HLIrs796051933
Exacrs796051933
Varsomers796051933
Maprs796051933
PheGenIrs796051933
hapmaprs796051933
1000 genomesrs796051933
hgdprs796051933
ensemblrs796051933
gopubmedrs796051933
geneviewrs796051933
scholarrs796051933
googlers796051933
pharmgkbrs796051933
gwascentralrs796051933
openSNPrs796051933
23andMers796051933
23andMe allrs796051933
SNP Nexus

SNPshotrs796051933
SNPdbers796051933
MSV3drs796051933
GWAS Ctlgrs796051933
Max Magnitude3

c.1045_1057delGTCATCTCTACGC or p.Val349Cysfs

ClinVar
Risk rs796051933(;)
Alt rs796051933(;)
Reference rs796051933(GCGTCATCTCTAC;GCGTCATCTCTAC)
Significance Pathogenic
Disease not provided
Variation info
Gene ASL
CLNDBN not provided
Reversed 0
HGVS NC_000007.13:g.65554665_65554677delGTCATCTCTACGC
CLNSRC
CLNACC RCV000185780.1,