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rs386833987

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs386833987(-;-)
Make rs386833987(-;TA)
ReferenceGRCh38 38.1/141
Chromosome6
Position73615418
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs386833987
ebirs386833987
HLIrs386833987
Exacrs386833987
Varsomers386833987
Maprs386833987
PheGenIrs386833987
hapmaprs386833987
1000 genomesrs386833987
hgdprs386833987
ensemblrs386833987
gopubmedrs386833987
geneviewrs386833987
scholarrs386833987
googlers386833987
pharmgkbrs386833987
gwascentralrs386833987
openSNPrs386833987
23andMers386833987
23andMe allrs386833987
SNP Nexus

SNPshotrs386833987
SNPdbers386833987
MSV3drs386833987
GWAS Ctlgrs386833987
Max Magnitude0
ClinVar
Risk rs386833987(;)
Alt rs386833987(;)
Reference rs386833987(TA;TA)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74325141_74325142delTA
CLNSRC ClinVar
CLNACC RCV000049964.1,


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


[PMID 11992753] Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.