Have questions? Visit https://www.reddit.com/r/SNPedia

rs281875208

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875208(A;A)
Make rs281875208(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position28404693
GeneSLC46A1
is asnp
is mentioned by
dbSNPrs281875208
ebirs281875208
HLIrs281875208
Exacrs281875208
Varsomers281875208
Maprs281875208
PheGenIrs281875208
hapmaprs281875208
1000 genomesrs281875208
hgdprs281875208
ensemblrs281875208
gopubmedrs281875208
geneviewrs281875208
scholarrs281875208
googlers281875208
pharmgkbrs281875208
gwascentralrs281875208
openSNPrs281875208
23andMers281875208
23andMe allrs281875208
SNP Nexus

SNPshotrs281875208
SNPdbers281875208
MSV3drs281875208
GWAS Ctlgrs281875208
Max Magnitude0
ClinVar
Risk rs281875208(A;A)
Alt rs281875208(A;A)
Reference rs281875208(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.26731711G>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023911.4, RCV000059708.1,


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