rs80338771

minus

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

Make rs80338771(C;C)

Make rs80338771(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

28405258

Gene

SLC46A1

is a	snp
is	mentioned by
dbSNP	rs80338771
dbSNP (classic)	rs80338771
ClinGen	rs80338771
ebi	rs80338771
HLI	rs80338771
Exac	rs80338771
Gnomad	rs80338771
Varsome	rs80338771
LitVar	rs80338771
Map	rs80338771
PheGenI	rs80338771
Biobank	rs80338771
1000 genomes	rs80338771
hgdp	rs80338771
ensembl	rs80338771
geneview	rs80338771
scholar	rs80338771
google	rs80338771
pharmgkb	rs80338771
gwascentral	rs80338771
openSNP	rs80338771
23andMe	rs80338771
SNPshot	rs80338771
SNPdbe	rs80338771
MSV3d	rs80338771
GWAS Ctlg	rs80338771

Max Magnitude

0

ClinVar
Risk	rs80338771(C;C)
Alt	rs80338771(C;C)
Reference	Rs80338771(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.26732276C>G
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000020950.1, RCV000059715.1,

[PMID 17446347 ] The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.