rs80338770
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs80338770(A;A) |
| Make rs80338770(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 28405360 |
| Gene | SLC46A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338770 |
| dbSNP (classic) | rs80338770 |
| ClinGen | rs80338770 |
| ebi | rs80338770 |
| HLI | rs80338770 |
| Exac | rs80338770 |
| Gnomad | rs80338770 |
| Varsome | rs80338770 |
| LitVar | rs80338770 |
| Map | rs80338770 |
| PheGenI | rs80338770 |
| Biobank | rs80338770 |
| 1000 genomes | rs80338770 |
| hgdp | rs80338770 |
| ensembl | rs80338770 |
| geneview | rs80338770 |
| scholar | rs80338770 |
| rs80338770 | |
| pharmgkb | rs80338770 |
| gwascentral | rs80338770 |
| openSNP | rs80338770 |
| 23andMe | rs80338770 |
| SNPshot | rs80338770 |
| SNPdbe | rs80338770 |
| MSV3d | rs80338770 |
| GWAS Ctlg | rs80338770 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338770(A;A) rs80338770(T;T) |
| Alt | rs80338770(A;A) rs80338770(T;T) |
| Reference | Rs80338770(C;C) |
| 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.26732378G>A; NC_000017.10:g.26732378G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000000903.2, RCV000059714.1, RCV000000900.1, RCV000059713.1, |
[PMID 3987728] Congenital folate malabsorption.
[PMID 17446347
] The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.
[PMID 18559978] A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.
