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rs80338769

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338769(-;-)
Make rs80338769(-;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position28405921
GeneSLC46A1
is asnp
is mentioned by
dbSNPrs80338769
ebirs80338769
HLIrs80338769
Exacrs80338769
Varsomers80338769
Maprs80338769
PheGenIrs80338769
hapmaprs80338769
1000 genomesrs80338769
hgdprs80338769
ensemblrs80338769
gopubmedrs80338769
geneviewrs80338769
scholarrs80338769
googlers80338769
pharmgkbrs80338769
gwascentralrs80338769
openSNPrs80338769
23andMers80338769
23andMe allrs80338769
SNP Nexus

SNPshotrs80338769
SNPdbers80338769
MSV3drs80338769
GWAS Ctlgrs80338769
Max Magnitude0
OMIM611672
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338769(;)
Alt rs80338769(;)
Reference rs80338769(G;G)
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.26732939delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000899.3,


[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.