rs386833991
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs386833991(A;A) |
Make rs386833991(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 73641907 |
Gene | SLC17A5 |
is a | snp |
is | mentioned by |
dbSNP | rs386833991 |
dbSNP (classic) | rs386833991 |
ClinGen | rs386833991 |
ebi | rs386833991 |
HLI | rs386833991 |
Exac | rs386833991 |
Gnomad | rs386833991 |
Varsome | rs386833991 |
LitVar | rs386833991 |
Map | rs386833991 |
PheGenI | rs386833991 |
Biobank | rs386833991 |
1000 genomes | rs386833991 |
hgdp | rs386833991 |
ensembl | rs386833991 |
geneview | rs386833991 |
scholar | rs386833991 |
rs386833991 | |
pharmgkb | rs386833991 |
gwascentral | rs386833991 |
openSNP | rs386833991 |
23andMe | rs386833991 |
SNPshot | rs386833991 |
SNPdbe | rs386833991 |
MSV3d | rs386833991 |
GWAS Ctlg | rs386833991 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833991(A;A) |
Alt | rs386833991(A;A) |
Reference | Rs386833991(G;G) |
Significance | Probable-Pathogenic |
Disease | Salla disease |
Variation | info |
Gene | SLC17A5 |
CLNDBN | Salla disease |
Reversed | 1 |
HGVS | NC_000006.11:g.74351630C>T |
CLNSRC | ClinVar |
CLNACC | RCV000049968.1, |
[PMID 10947946] The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.