rs563607795
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs563607795(A;C) |
Make rs563607795(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 227695907 |
Gene | SLC19A3 |
is a | snp |
is | mentioned by |
dbSNP | rs563607795 |
dbSNP (classic) | rs563607795 |
ClinGen | rs563607795 |
ebi | rs563607795 |
HLI | rs563607795 |
Exac | rs563607795 |
Gnomad | rs563607795 |
Varsome | rs563607795 |
LitVar | rs563607795 |
Map | rs563607795 |
PheGenI | rs563607795 |
Biobank | rs563607795 |
1000 genomes | rs563607795 |
hgdp | rs563607795 |
ensembl | rs563607795 |
geneview | rs563607795 |
scholar | rs563607795 |
rs563607795 | |
pharmgkb | rs563607795 |
gwascentral | rs563607795 |
openSNP | rs563607795 |
23andMe | rs563607795 |
SNPshot | rs563607795 |
SNPdbe | rs563607795 |
MSV3d | rs563607795 |
GWAS Ctlg | rs563607795 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs563607795(C;C) rs563607795(G;G) |
Alt | rs563607795(C;C) rs563607795(G;G) |
Reference | Rs563607795(A;A) |
Significance | Probable-Pathogenic |
Disease | Thiamine Metabolism Dysfunction Syndrome |
Variation | info |
Gene | SLC19A3 |
CLNDBN | Thiamine Metabolism Dysfunction Syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.228560623A>C |
CLNSRC | |
CLNACC | RCV000294366.1, |