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rs281875209

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281875209(C;C)
Make rs281875209(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position28404685
GeneSLC46A1
is asnp
is mentioned by
dbSNPrs281875209
ebirs281875209
HLIrs281875209
Exacrs281875209
Varsomers281875209
Maprs281875209
PheGenIrs281875209
hapmaprs281875209
1000 genomesrs281875209
hgdprs281875209
ensemblrs281875209
gopubmedrs281875209
geneviewrs281875209
scholarrs281875209
googlers281875209
pharmgkbrs281875209
gwascentralrs281875209
openSNPrs281875209
23andMers281875209
23andMe allrs281875209
SNP Nexus

SNPshotrs281875209
SNPdbers281875209
MSV3drs281875209
GWAS Ctlgrs281875209
Max Magnitude0
ClinVar
Risk rs281875209(A,C;A,C)
Alt rs281875209(A,C;A,C)
Reference rs281875209(G;G)
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.26731703C>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023913.2, RCV000059709.1,


[PMID 21333572OA-icon.png] Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.