rs118204450

Orientation

minus

Stabilized

minus

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

Make rs118204450(C;T)

Make rs118204450(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23845837

Gene

FUCA1

is a	snp
is	mentioned by
dbSNP	rs118204450
dbSNP (classic)	rs118204450
ClinGen	rs118204450
ebi	rs118204450
HLI	rs118204450
Exac	rs118204450
Gnomad	rs118204450
Varsome	rs118204450
LitVar	rs118204450
Map	rs118204450
PheGenI	rs118204450
Biobank	rs118204450
1000 genomes	rs118204450
hgdp	rs118204450
ensembl	rs118204450
geneview	rs118204450
scholar	rs118204450
google	rs118204450
pharmgkb	rs118204450
gwascentral	rs118204450
openSNP	rs118204450
23andMe	rs118204450
SNPshot	rs118204450
SNPdbe	rs118204450
MSV3d	rs118204450
GWAS Ctlg	rs118204450

Max Magnitude

0

OMIM	612280
Desc
Variant	0001
Related	also

ClinVar
Risk	rs118204450(T;T)
Alt	rs118204450(T;T)
Reference	Rs118204450(C;C)
Significance	Pathogenic
Disease	Fucosidosis
Variation	info
Gene	FUCA1
CLNDBN	Fucosidosis
Reversed	1
HGVS	NC_000001.10:g.24172327G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000716.2,