rs146095590
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs146095590(C;T) |
Make rs146095590(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 73610399 |
Gene | SLC17A5 |
is a | snp |
is | mentioned by |
dbSNP | rs146095590 |
dbSNP (classic) | rs146095590 |
ClinGen | rs146095590 |
ebi | rs146095590 |
HLI | rs146095590 |
Exac | rs146095590 |
Gnomad | rs146095590 |
Varsome | rs146095590 |
LitVar | rs146095590 |
Map | rs146095590 |
PheGenI | rs146095590 |
Biobank | rs146095590 |
1000 genomes | rs146095590 |
hgdp | rs146095590 |
ensembl | rs146095590 |
geneview | rs146095590 |
scholar | rs146095590 |
rs146095590 | |
pharmgkb | rs146095590 |
gwascentral | rs146095590 |
openSNP | rs146095590 |
23andMe | rs146095590 |
SNPshot | rs146095590 |
SNPdbe | rs146095590 |
MSV3d | rs146095590 |
GWAS Ctlg | rs146095590 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146095590(T;T) |
Alt | rs146095590(T;T) |
Reference | Rs146095590(C;C) |
Significance | Probable-Pathogenic |
Disease | Salla disease |
Variation | info |
Gene | SLC17A5 |
CLNDBN | Salla disease |
Reversed | 0 |
HGVS | NC_000006.11:g.74320122C>T |
CLNSRC | |
CLNACC | RCV000409414.1, |