rs13551

Orientation

minus

Stabilized

minus

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

Make rs13551(A;G)

Make rs13551(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23854472

Gene

FUCA1

is a	snp
is	mentioned by
dbSNP	rs13551
dbSNP (classic)	rs13551
ClinGen	rs13551
ebi	rs13551
HLI	rs13551
Exac	rs13551
Gnomad	rs13551
Varsome	rs13551
LitVar	rs13551
Map	rs13551
PheGenI	rs13551
Biobank	rs13551
1000 genomes	rs13551
hgdp	rs13551
ensembl	rs13551
geneview	rs13551
scholar	rs13551
google	rs13551
pharmgkb	rs13551
gwascentral	rs13551
openSNP	rs13551
23andMe	rs13551
SNPshot	rs13551
SNPdbe	rs13551
MSV3d	rs13551
GWAS Ctlg	rs13551

GMAF

0.2511

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

OMIM	230000
Desc	FU1/FU2 POLYMORPHISM
Variant	0011
Related	also

OMIM	612280
Desc
Variant	0011
Related	also

ClinVar
Risk	rs13551(G;G)
Alt	rs13551(G;G)
Reference	Rs13551(A;A)
Significance	Non-pathogenic
Disease	FU1/FU2 POLYMORPHISM Fucosidosis
Variation	info
Gene	FUCA1
CLNDBN	FU1/FU2 POLYMORPHISM Fucosidosis
Reversed	1
HGVS	NC_000001.10:g.24180962T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000726.2, RCV000382814.1,