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rs794729653

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794729653(-;-)
Make rs794729653(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position73641807
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs794729653
ebirs794729653
HLIrs794729653
Exacrs794729653
Varsomers794729653
Maprs794729653
PheGenIrs794729653
hapmaprs794729653
1000 genomesrs794729653
hgdprs794729653
ensemblrs794729653
gopubmedrs794729653
geneviewrs794729653
scholarrs794729653
googlers794729653
pharmgkbrs794729653
gwascentralrs794729653
openSNPrs794729653
23andMers794729653
23andMe allrs794729653
SNP Nexus

SNPshotrs794729653
SNPdbers794729653
MSV3drs794729653
GWAS Ctlgrs794729653
Max Magnitude0
ClinVar
Risk rs794729653(;)
Alt rs794729653(;)
Reference rs794729653(A;A)
Significance Probable-Pathogenic
Disease Salla disease Sialic acid storage disease
Variation info
Gene SLC17A5
CLNDBN Salla disease Sialic acid storage disease, severe infantile type
Reversed 1
HGVS NC_000006.11:g.74351530delT
CLNSRC
CLNACC RCV000185578.2, RCV000185579.2,