rs121908172
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 3 | Carrier of an arterial tortuosity syndrome mutation |
Make rs121908172(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 46726312 |
Gene | SLC2A10 |
is a | snp |
is | mentioned by |
dbSNP | rs121908172 |
dbSNP (classic) | rs121908172 |
ClinGen | rs121908172 |
ebi | rs121908172 |
HLI | rs121908172 |
Exac | rs121908172 |
Gnomad | rs121908172 |
Varsome | rs121908172 |
LitVar | rs121908172 |
Map | rs121908172 |
PheGenI | rs121908172 |
Biobank | rs121908172 |
1000 genomes | rs121908172 |
hgdp | rs121908172 |
ensembl | rs121908172 |
geneview | rs121908172 |
scholar | rs121908172 |
rs121908172 | |
pharmgkb | rs121908172 |
gwascentral | rs121908172 |
openSNP | rs121908172 |
23andMe | rs121908172 |
SNPshot | rs121908172 |
SNPdbe | rs121908172 |
MSV3d | rs121908172 |
GWAS Ctlg | rs121908172 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs121908172(T;T) |
Alt | rs121908172(T;T) |
Reference | Rs121908172(G;G) |
Significance | Pathogenic |
Disease | Arterial tortuosity syndrome not provided |
Variation | info |
Gene | SLC2A10 |
CLNDBN | Arterial tortuosity syndrome not provided |
Reversed | 0 |
HGVS | NC_000020.10:g.45354951G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004851.2, RCV000199687.1, |