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rs80338775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338775(A;A)
Make rs80338775(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position28402322
GeneSLC46A1
is asnp
is mentioned by
dbSNPrs80338775
ebirs80338775
HLIrs80338775
Exacrs80338775
Varsomers80338775
Maprs80338775
PheGenIrs80338775
hapmaprs80338775
1000 genomesrs80338775
hgdprs80338775
ensemblrs80338775
gopubmedrs80338775
geneviewrs80338775
scholarrs80338775
googlers80338775
pharmgkbrs80338775
gwascentralrs80338775
openSNPrs80338775
23andMers80338775
23andMe allrs80338775
SNP Nexus

SNPshotrs80338775
SNPdbers80338775
MSV3drs80338775
GWAS Ctlgrs80338775
Max Magnitude0
OMIM611672
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338775(A;A)
Alt rs80338775(A;A)
Reference rs80338775(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.26729340C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000898.1,


[PMID 11807405] Hereditary folate malabsorption: family report and review of the literature.


[PMID 17129779] Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.