rs387907312
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387907312(C;T) |
Make rs387907312(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 42929918 |
Gene | SLC2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs387907312 |
dbSNP (classic) | rs387907312 |
ClinGen | rs387907312 |
ebi | rs387907312 |
HLI | rs387907312 |
Exac | rs387907312 |
Gnomad | rs387907312 |
Varsome | rs387907312 |
LitVar | rs387907312 |
Map | rs387907312 |
PheGenI | rs387907312 |
Biobank | rs387907312 |
1000 genomes | rs387907312 |
hgdp | rs387907312 |
ensembl | rs387907312 |
geneview | rs387907312 |
scholar | rs387907312 |
rs387907312 | |
pharmgkb | rs387907312 |
gwascentral | rs387907312 |
openSNP | rs387907312 |
23andMe | rs387907312 |
SNPshot | rs387907312 |
SNPdbe | rs387907312 |
MSV3d | rs387907312 |
GWAS Ctlg | rs387907312 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907312(T;T) |
Alt | rs387907312(T;T) |
Reference | Rs387907312(C;C) |
Significance | Pathogenic |
Disease | Dystonia 9 not provided |
Variation | info |
Gene | SLC2A1 |
CLNDBN | Dystonia 9 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.43395589G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000030840.28, RCV000255028.1, |