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rs386833994

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCATCATTAAGAAAT;TCATCATTAAGAAAT) 0 common in clinvar
Make rs386833994(-;-)
Make rs386833994(-;TCATCATTAAGAAAT)
ReferenceGRCh38 38.1/141
Chromosome6
Position73635385
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs386833994
ebirs386833994
HLIrs386833994
Exacrs386833994
Varsomers386833994
Maprs386833994
PheGenIrs386833994
hapmaprs386833994
1000 genomesrs386833994
hgdprs386833994
ensemblrs386833994
gopubmedrs386833994
geneviewrs386833994
scholarrs386833994
googlers386833994
pharmgkbrs386833994
gwascentralrs386833994
openSNPrs386833994
23andMers386833994
23andMe allrs386833994
SNP Nexus

SNPshotrs386833994
SNPdbers386833994
MSV3drs386833994
GWAS Ctlgrs386833994
Max Magnitude0
ClinVar
Risk rs386833994(;)
Alt rs386833994(;)
Reference rs386833994(TCATCATTAAGAAAT;TCATCATTAAGAAAT)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74345108_74345122delATTTCTTAATGATGA
CLNSRC ClinVar
CLNACC RCV000049971.1,


[PMID 12121352] An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.