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rs80338771

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338771(C;C)
Make rs80338771(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position28405258
GeneSLC46A1
is asnp
is mentioned by
dbSNPrs80338771
ebirs80338771
HLIrs80338771
Exacrs80338771
Varsomers80338771
Maprs80338771
PheGenIrs80338771
hapmaprs80338771
1000 genomesrs80338771
hgdprs80338771
ensemblrs80338771
gopubmedrs80338771
geneviewrs80338771
scholarrs80338771
googlers80338771
pharmgkbrs80338771
gwascentralrs80338771
openSNPrs80338771
23andMers80338771
23andMe allrs80338771
SNP Nexus

SNPshotrs80338771
SNPdbers80338771
MSV3drs80338771
GWAS Ctlgrs80338771
Max Magnitude0
ClinVar
Risk rs80338771(C;C)
Alt rs80338771(C;C)
Reference rs80338771(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.26732276C>G
CLNSRC UniProtKB (variants)
CLNACC RCV000020950.1, RCV000059715.1,


[PMID 17446347OA-icon.png] The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.