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rs80338772

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338772(C;G)
Make rs80338772(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position28404743
GeneSLC46A1
is asnp
is mentioned by
dbSNPrs80338772
ebirs80338772
HLIrs80338772
Exacrs80338772
Varsomers80338772
Maprs80338772
PheGenIrs80338772
hapmaprs80338772
1000 genomesrs80338772
hgdprs80338772
ensemblrs80338772
gopubmedrs80338772
geneviewrs80338772
scholarrs80338772
googlers80338772
pharmgkbrs80338772
gwascentralrs80338772
openSNPrs80338772
23andMers80338772
23andMe allrs80338772
SNP Nexus

SNPshotrs80338772
SNPdbers80338772
MSV3drs80338772
GWAS Ctlgrs80338772
Max Magnitude0
OMIM611672
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80338772(G;G)
Alt rs80338772(G;G)
Reference rs80338772(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.26731761G>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000000901.1, RCV000059717.1,


[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.