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rs80338770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs80338770(A;A)
Make rs80338770(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position28405360
GeneSLC46A1
is asnp
is mentioned by
dbSNPrs80338770
ebirs80338770
HLIrs80338770
Exacrs80338770
Varsomers80338770
Maprs80338770
PheGenIrs80338770
hapmaprs80338770
1000 genomesrs80338770
hgdprs80338770
ensemblrs80338770
gopubmedrs80338770
geneviewrs80338770
scholarrs80338770
googlers80338770
pharmgkbrs80338770
gwascentralrs80338770
openSNPrs80338770
23andMers80338770
23andMe allrs80338770
SNP Nexus

SNPshotrs80338770
SNPdbers80338770
MSV3drs80338770
GWAS Ctlgrs80338770
Max Magnitude0
OMIM611672
Desc
Variant0003
Relatedalso
OMIM611672
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80338770(A,T;A,T)
Alt rs80338770(A,T;A,T)
Reference rs80338770(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.26732378G>A; NC_000017.10:g.26732378G>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000000903.2, RCV000059714.1, RCV000000900.1, RCV000059713.1,


[PMID 3987728] Congenital folate malabsorption.

[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. [PMID 18559978] A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.