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rs80338773

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338773(C;T)
Make rs80338773(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position28402277
GeneSLC46A1
is asnp
is mentioned by
dbSNPrs80338773
ebirs80338773
HLIrs80338773
Exacrs80338773
Varsomers80338773
Maprs80338773
PheGenIrs80338773
hapmaprs80338773
1000 genomesrs80338773
hgdprs80338773
ensemblrs80338773
gopubmedrs80338773
geneviewrs80338773
scholarrs80338773
googlers80338773
pharmgkbrs80338773
gwascentralrs80338773
openSNPrs80338773
23andMers80338773
23andMe allrs80338773
SNP Nexus

SNPshotrs80338773
SNPdbers80338773
MSV3drs80338773
GWAS Ctlgrs80338773
Max Magnitude0
OMIM611672
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80338773(T;T)
Alt rs80338773(T;T)
Reference rs80338773(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.26729295G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000000902.3, RCV000059710.1,


[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.