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rs119491109

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119491109(A;G)
Make rs119491109(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position73638477
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs119491109
ebirs119491109
HLIrs119491109
Exacrs119491109
Varsomers119491109
Maprs119491109
PheGenIrs119491109
hapmaprs119491109
1000 genomesrs119491109
hgdprs119491109
ensemblrs119491109
gopubmedrs119491109
geneviewrs119491109
scholarrs119491109
googlers119491109
pharmgkbrs119491109
gwascentralrs119491109
openSNPrs119491109
23andMers119491109
23andMe allrs119491109
SNP Nexus

SNPshotrs119491109
SNPdbers119491109
MSV3drs119491109
GWAS Ctlgrs119491109
Max Magnitude0
OMIM604322
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119491109(G;G)
Alt rs119491109(G;G)
Reference rs119491109(A;A)
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.74348200T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005970.3,