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rs80338774

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338774(C;G)
Make rs80338774(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position28400658
GeneSLC46A1
is asnp
is mentioned by
dbSNPrs80338774
ebirs80338774
HLIrs80338774
Exacrs80338774
Varsomers80338774
Maprs80338774
PheGenIrs80338774
hapmaprs80338774
1000 genomesrs80338774
hgdprs80338774
ensemblrs80338774
gopubmedrs80338774
geneviewrs80338774
scholarrs80338774
googlers80338774
pharmgkbrs80338774
gwascentralrs80338774
openSNPrs80338774
23andMers80338774
23andMe allrs80338774
SNP Nexus

SNPshotrs80338774
SNPdbers80338774
MSV3drs80338774
GWAS Ctlgrs80338774
Max Magnitude0
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 (variants)
CLNACC RCV000020948.1, RCV000059712.1,


[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.