rs386833987
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TA;TA) | 0 | common in clinvar |
Make rs386833987(-;-) |
Make rs386833987(-;TA) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 73615418 |
Gene | SLC17A5 |
is a | snp |
is | mentioned by |
dbSNP | rs386833987 |
dbSNP (classic) | rs386833987 |
ClinGen | rs386833987 |
ebi | rs386833987 |
HLI | rs386833987 |
Exac | rs386833987 |
Gnomad | rs386833987 |
Varsome | rs386833987 |
LitVar | rs386833987 |
Map | rs386833987 |
PheGenI | rs386833987 |
Biobank | rs386833987 |
1000 genomes | rs386833987 |
hgdp | rs386833987 |
ensembl | rs386833987 |
geneview | rs386833987 |
scholar | rs386833987 |
rs386833987 | |
pharmgkb | rs386833987 |
gwascentral | rs386833987 |
openSNP | rs386833987 |
23andMe | rs386833987 |
SNPshot | rs386833987 |
SNPdbe | rs386833987 |
MSV3d | rs386833987 |
GWAS Ctlg | rs386833987 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833987(-;-) |
Alt | rs386833987(-;-) |
Reference | Rs386833987(TA;TA) |
Significance | Other |
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 10947946] 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.