rs771156053
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs771156053(-;-) |
Make rs771156053(-;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 73621877 |
Gene | SLC17A5 |
is a | snp |
is | mentioned by |
dbSNP | rs771156053 |
dbSNP (classic) | rs771156053 |
ClinGen | rs771156053 |
ebi | rs771156053 |
HLI | rs771156053 |
Exac | rs771156053 |
Gnomad | rs771156053 |
Varsome | rs771156053 |
LitVar | rs771156053 |
Map | rs771156053 |
PheGenI | rs771156053 |
Biobank | rs771156053 |
1000 genomes | rs771156053 |
hgdp | rs771156053 |
ensembl | rs771156053 |
geneview | rs771156053 |
scholar | rs771156053 |
rs771156053 | |
pharmgkb | rs771156053 |
gwascentral | rs771156053 |
openSNP | rs771156053 |
23andMe | rs771156053 |
SNPshot | rs771156053 |
SNPdbe | rs771156053 |
MSV3d | rs771156053 |
GWAS Ctlg | rs771156053 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs771156053(-;-) |
Alt | rs771156053(-;-) |
Reference | Rs771156053(T;T) |
Significance | Probable-Pathogenic |
Disease | Salla disease |
Variation | info |
Gene | SLC17A5 |
CLNDBN | Salla disease |
Reversed | 0 |
HGVS | NC_000006.11:g.74331600delT |
CLNSRC | |
CLNACC | RCV000409422.1, |