rs281875209

minus

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

Make rs281875209(C;C)

Make rs281875209(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

28404685

Gene

SLC46A1

is a	snp
is	mentioned by
dbSNP	rs281875209
dbSNP (classic)	rs281875209
ClinGen	rs281875209
ebi	rs281875209
HLI	rs281875209
Exac	rs281875209
Gnomad	rs281875209
Varsome	rs281875209
LitVar	rs281875209
Map	rs281875209
PheGenI	rs281875209
Biobank	rs281875209
1000 genomes	rs281875209
hgdp	rs281875209
ensembl	rs281875209
geneview	rs281875209
scholar	rs281875209
google	rs281875209
pharmgkb	rs281875209
gwascentral	rs281875209
openSNP	rs281875209
23andMe	rs281875209
SNPshot	rs281875209
SNPdbe	rs281875209
MSV3d	rs281875209
GWAS Ctlg	rs281875209

Max Magnitude

0

ClinVar
Risk	rs281875209(A;A) rs281875209(C;C)
Alt	rs281875209(A;A) rs281875209(C;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 (protein) UniProtKB (variants)
CLNACC	RCV000023913.2, RCV000059709.1,

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