rs154623632
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GC;GC) | 0 | common in clinvar |
Make rs154623632(AA;AA) |
Make rs154623632(AA;GC) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 28405917 |
Gene | SLC46A1 |
is a | snp |
is | mentioned by |
dbSNP | rs154623632 |
dbSNP (classic) | rs154623632 |
ClinGen | rs154623632 |
ebi | rs154623632 |
HLI | rs154623632 |
Exac | rs154623632 |
Gnomad | rs154623632 |
Varsome | rs154623632 |
LitVar | rs154623632 |
Map | rs154623632 |
PheGenI | rs154623632 |
Biobank | rs154623632 |
1000 genomes | rs154623632 |
hgdp | rs154623632 |
ensembl | rs154623632 |
geneview | rs154623632 |
scholar | rs154623632 |
rs154623632 | |
pharmgkb | rs154623632 |
gwascentral | rs154623632 |
openSNP | rs154623632 |
23andMe | rs154623632 |
SNPshot | rs154623632 |
SNPdbe | rs154623632 |
MSV3d | rs154623632 |
GWAS Ctlg | rs154623632 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs154623632(AA;AA) |
Alt | rs154623632(AA;AA) |
Reference | Rs154623632(GC;GC) |
Significance | Pathogenic |
Disease | Congenital defect of folate absorption |
Variation | info |
Gene | SLC46A1 |
CLNDBN | Congenital defect of folate absorption |
Reversed | 1 |
HGVS | NC_000017.10:g.26732935_26732936delGCinsTT |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020949.1, |