rs199599532
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs199599532(G;G) |
Make rs199599532(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 46726926 |
Gene | SLC2A10 |
is a | snp |
is | mentioned by |
dbSNP | rs199599532 |
dbSNP (classic) | rs199599532 |
ClinGen | rs199599532 |
ebi | rs199599532 |
HLI | rs199599532 |
Exac | rs199599532 |
Gnomad | rs199599532 |
Varsome | rs199599532 |
LitVar | rs199599532 |
Map | rs199599532 |
PheGenI | rs199599532 |
Biobank | rs199599532 |
1000 genomes | rs199599532 |
hgdp | rs199599532 |
ensembl | rs199599532 |
geneview | rs199599532 |
scholar | rs199599532 |
rs199599532 | |
pharmgkb | rs199599532 |
gwascentral | rs199599532 |
openSNP | rs199599532 |
23andMe | rs199599532 |
SNPshot | rs199599532 |
SNPdbe | rs199599532 |
MSV3d | rs199599532 |
GWAS Ctlg | rs199599532 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199599532(G;G) |
Alt | rs199599532(G;G) |
Reference | Rs199599532(T;T) |
Significance | Probable-Pathogenic |
Disease | Arterial tortuosity syndrome |
Variation | info |
Gene | SLC2A10 |
CLNDBN | Arterial tortuosity syndrome |
Reversed | 0 |
HGVS | NC_000020.10:g.45355565T>G |
CLNSRC | |
CLNACC | RCV000233181.1, |