rs80358199

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in complete genomics

Make rs80358199(G;G)

Make rs80358199(G;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23846105

Gene

FUCA1

is a	snp
is	mentioned by
dbSNP	rs80358199
dbSNP (classic)	rs80358199
ClinGen	rs80358199
ebi	rs80358199
HLI	rs80358199
Exac	rs80358199
Gnomad	rs80358199
Varsome	rs80358199
LitVar	rs80358199
Map	rs80358199
PheGenI	rs80358199
Biobank	rs80358199
1000 genomes	rs80358199
hgdp	rs80358199
ensembl	rs80358199
geneview	rs80358199
scholar	rs80358199
google	rs80358199
pharmgkb	rs80358199
gwascentral	rs80358199
openSNP	rs80358199
23andMe	rs80358199
SNPshot	rs80358199
SNPdbe	rs80358199
MSV3d	rs80358199
GWAS Ctlg	rs80358199

Max Magnitude

0

OMIM	612280
Desc
Variant	0012
Related	also

ClinVar
Risk	rs80358199(G;G)
Alt	rs80358199(G;G)
Reference	Rs80358199(T;T)
Significance	Pathogenic
Disease	Fucosidosis
Variation	info
Gene	FUCA1
CLNDBN	Fucosidosis
Reversed	1
HGVS	NC_000001.10:g.24172595A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000727.2,