rs80338774
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80338774(C;G) |
Make rs80338774(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 28400658 |
Gene | SARM1, SLC46A1 |
is a | snp |
is | mentioned by |
dbSNP | rs80338774 |
dbSNP (classic) | rs80338774 |
ClinGen | rs80338774 |
ebi | rs80338774 |
HLI | rs80338774 |
Exac | rs80338774 |
Gnomad | rs80338774 |
Varsome | rs80338774 |
LitVar | rs80338774 |
Map | rs80338774 |
PheGenI | rs80338774 |
Biobank | rs80338774 |
1000 genomes | rs80338774 |
hgdp | rs80338774 |
ensembl | rs80338774 |
geneview | rs80338774 |
scholar | rs80338774 |
rs80338774 | |
pharmgkb | rs80338774 |
gwascentral | rs80338774 |
openSNP | rs80338774 |
23andMe | rs80338774 |
SNPshot | rs80338774 |
SNPdbe | rs80338774 |
MSV3d | rs80338774 |
GWAS Ctlg | rs80338774 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338774(G;G) |
Alt | rs80338774(G;G) |
Reference | Rs80338774(C;C) |
Significance | Pathogenic |
Disease | Congenital defect of folate absorption not provided |
Variation | info |
Gene | SLC46A1 SARM1 |
CLNDBN | Congenital defect of folate absorption not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.26727674G>C |
CLNSRC | UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000020948.1, RCV000059712.1, |
[PMID 17446347] The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.