rs794727642
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794727642(A;A) |
Make rs794727642(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 42930684 |
Gene | SLC2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727642 |
dbSNP (classic) | rs794727642 |
ClinGen | rs794727642 |
ebi | rs794727642 |
HLI | rs794727642 |
Exac | rs794727642 |
Gnomad | rs794727642 |
Varsome | rs794727642 |
LitVar | rs794727642 |
Map | rs794727642 |
PheGenI | rs794727642 |
Biobank | rs794727642 |
1000 genomes | rs794727642 |
hgdp | rs794727642 |
ensembl | rs794727642 |
geneview | rs794727642 |
scholar | rs794727642 |
rs794727642 | |
pharmgkb | rs794727642 |
gwascentral | rs794727642 |
openSNP | rs794727642 |
23andMe | rs794727642 |
SNPshot | rs794727642 |
SNPdbe | rs794727642 |
MSV3d | rs794727642 |
GWAS Ctlg | rs794727642 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727642(A;A) rs794727642(T;T) |
Alt | rs794727642(A;A) rs794727642(T;T) |
Reference | Rs794727642(G;G) |
Significance | Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | SLC2A1 |
CLNDBN | not provided not specified |
Reversed | 1 |
HGVS | NC_000001.10:g.43396355C>A; NC_000001.10:g.43396355C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000189394.1, RCV000178275.1, |