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rs587779410

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779410(C;C)
Make rs587779410(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position73641716
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs587779410
ebirs587779410
HLIrs587779410
Exacrs587779410
Varsomers587779410
Maprs587779410
PheGenIrs587779410
hapmaprs587779410
1000 genomesrs587779410
hgdprs587779410
ensemblrs587779410
gopubmedrs587779410
geneviewrs587779410
scholarrs587779410
googlers587779410
pharmgkbrs587779410
gwascentralrs587779410
openSNPrs587779410
23andMers587779410
23andMe allrs587779410
SNP Nexus

SNPshotrs587779410
SNPdbers587779410
MSV3drs587779410
GWAS Ctlgrs587779410
Max Magnitude0
ClinVar
Risk rs587779410(C;C)
Alt rs587779410(C;C)
Reference rs587779410(T;T)
Significance Pathogenic
Disease Sialic acid storage disease
Variation info
Gene SLC17A5
CLNDBN Sialic acid storage disease, severe infantile type
Reversed 1
HGVS NC_000006.11:g.74351439A>G
CLNSRC
CLNACC RCV000087101.1,