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rs386833988

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs386833988(-;-)
Make rs386833988(-;GT)
ReferenceGRCh38 38.1/141
Chromosome6
Position73610520
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs386833988
ebirs386833988
HLIrs386833988
Exacrs386833988
Varsomers386833988
Maprs386833988
PheGenIrs386833988
hapmaprs386833988
1000 genomesrs386833988
hgdprs386833988
ensemblrs386833988
gopubmedrs386833988
geneviewrs386833988
scholarrs386833988
googlers386833988
pharmgkbrs386833988
gwascentralrs386833988
openSNPrs386833988
23andMers386833988
23andMe allrs386833988
SNP Nexus

SNPshotrs386833988
SNPdbers386833988
MSV3drs386833988
GWAS Ctlgrs386833988
Max Magnitude0
ClinVar
Risk rs386833988(;)
Alt rs386833988(;)
Reference rs386833988(GT;GT)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74320243_74320244delAC
CLNSRC ClinVar
CLNACC RCV000049965.2,


[PMID 10947946OA-icon.png] The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.