rs281875210
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281875210(G;T) |
Make rs281875210(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 28405231 |
Gene | SLC46A1 |
is a | snp |
is | mentioned by |
dbSNP | rs281875210 |
dbSNP (classic) | rs281875210 |
ClinGen | rs281875210 |
ebi | rs281875210 |
HLI | rs281875210 |
Exac | rs281875210 |
Gnomad | rs281875210 |
Varsome | rs281875210 |
LitVar | rs281875210 |
Map | rs281875210 |
PheGenI | rs281875210 |
Biobank | rs281875210 |
1000 genomes | rs281875210 |
hgdp | rs281875210 |
ensembl | rs281875210 |
geneview | rs281875210 |
scholar | rs281875210 |
rs281875210 | |
pharmgkb | rs281875210 |
gwascentral | rs281875210 |
openSNP | rs281875210 |
23andMe | rs281875210 |
SNPshot | rs281875210 |
SNPdbe | rs281875210 |
MSV3d | rs281875210 |
GWAS Ctlg | rs281875210 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281875210(T;T) |
Alt | rs281875210(T;T) |
Reference | Rs281875210(G;G) |
Significance | Pathogenic |
Disease | Congenital defect of folate absorption not provided |
Variation | info |
Gene | SLC46A1 |
CLNDBN | Congenital defect of folate absorption not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.26732249C>A |
CLNSRC | UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000055984.1, RCV000059716.1, |