rs281875208

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs281875208(A;A)

Make rs281875208(A;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

28404693

Gene

SLC46A1

is a	snp
is	mentioned by
dbSNP	rs281875208
dbSNP (classic)	rs281875208
ClinGen	rs281875208
ebi	rs281875208
HLI	rs281875208
Exac	rs281875208
Gnomad	rs281875208
Varsome	rs281875208
LitVar	rs281875208
Map	rs281875208
PheGenI	rs281875208
Biobank	rs281875208
1000 genomes	rs281875208
hgdp	rs281875208
ensembl	rs281875208
geneview	rs281875208
scholar	rs281875208
google	rs281875208
pharmgkb	rs281875208
gwascentral	rs281875208
openSNP	rs281875208
23andMe	rs281875208
SNPshot	rs281875208
SNPdbe	rs281875208
MSV3d	rs281875208
GWAS Ctlg	rs281875208

Max Magnitude

0

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 (protein) UniProtKB (variants)
CLNACC	RCV000023911.4, RCV000059708.1,

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