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rs119491110

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119491110(C;G)
Make rs119491110(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position73615425
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs119491110
ebirs119491110
HLIrs119491110
Exacrs119491110
Varsomers119491110
Maprs119491110
PheGenIrs119491110
hapmaprs119491110
1000 genomesrs119491110
hgdprs119491110
ensemblrs119491110
gopubmedrs119491110
geneviewrs119491110
scholarrs119491110
googlers119491110
pharmgkbrs119491110
gwascentralrs119491110
openSNPrs119491110
23andMers119491110
23andMe allrs119491110
SNP Nexus

SNPshotrs119491110
SNPdbers119491110
MSV3drs119491110
GWAS Ctlgrs119491110
Max Magnitude0
OMIM604322
Desc
Variant0005
Relatedalso
ClinVar
Risk rs119491110(G;G)
Alt rs119491110(G;G)
Reference rs119491110(C;C)
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.74325148G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005971.3,