rs74315374
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs74315374(A;A) |
Make rs74315374(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 169477212 |
Gene | SLC19A2 |
is a | snp |
is | mentioned by |
dbSNP | rs74315374 |
dbSNP (classic) | rs74315374 |
ClinGen | rs74315374 |
ebi | rs74315374 |
HLI | rs74315374 |
Exac | rs74315374 |
Gnomad | rs74315374 |
Varsome | rs74315374 |
LitVar | rs74315374 |
Map | rs74315374 |
PheGenI | rs74315374 |
Biobank | rs74315374 |
1000 genomes | rs74315374 |
hgdp | rs74315374 |
ensembl | rs74315374 |
geneview | rs74315374 |
scholar | rs74315374 |
rs74315374 | |
pharmgkb | rs74315374 |
gwascentral | rs74315374 |
openSNP | rs74315374 |
23andMe | rs74315374 |
SNPshot | rs74315374 |
SNPdbe | rs74315374 |
MSV3d | rs74315374 |
GWAS Ctlg | rs74315374 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315374(A;A) rs74315374(C;C) |
Alt | rs74315374(A;A) rs74315374(C;C) |
Reference | Rs74315374(G;G) |
Significance | Pathogenic |
Disease | Megaloblastic anemia |
Variation | info |
Gene | SLC19A2 |
CLNDBN | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
Reversed | 1 |
HGVS | NC_000001.10:g.169446450C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006322.3, |