Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833992

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833992(-;-)
Make rs386833992(-;A)
ReferenceGRCh38 38.1/141
Chromosome6
Position73641709
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs386833992
ebirs386833992
HLIrs386833992
Exacrs386833992
Varsomers386833992
Maprs386833992
PheGenIrs386833992
hapmaprs386833992
1000 genomesrs386833992
hgdprs386833992
ensemblrs386833992
gopubmedrs386833992
geneviewrs386833992
scholarrs386833992
googlers386833992
pharmgkbrs386833992
gwascentralrs386833992
openSNPrs386833992
23andMers386833992
23andMe allrs386833992
SNP Nexus

SNPshotrs386833992
SNPdbers386833992
MSV3drs386833992
GWAS Ctlgrs386833992
Max Magnitude0
ClinVar
Risk rs386833992(;)
Alt rs386833992(;)
Reference rs386833992(A;A)
Significance Probable-Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74351432delT
CLNSRC ClinVar
CLNACC RCV000049969.2,


[PMID 12592494] A case of Salla disease with involvement of the cerebellar white matter.