rs80358195

Orientation

minus

Stabilized

minus

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

Make rs80358195(G;T)

Make rs80358195(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

23848671

Gene

FUCA1

is a	snp
is	mentioned by
dbSNP	rs80358195
dbSNP (classic)	rs80358195
ClinGen	rs80358195
ebi	rs80358195
HLI	rs80358195
Exac	rs80358195
Gnomad	rs80358195
Varsome	rs80358195
LitVar	rs80358195
Map	rs80358195
PheGenI	rs80358195
Biobank	rs80358195
1000 genomes	rs80358195
hgdp	rs80358195
ensembl	rs80358195
geneview	rs80358195
scholar	rs80358195
google	rs80358195
pharmgkb	rs80358195
gwascentral	rs80358195
openSNP	rs80358195
23andMe	rs80358195
SNPshot	rs80358195
SNPdbe	rs80358195
MSV3d	rs80358195
GWAS Ctlg	rs80358195

Max Magnitude

0

OMIM	612280
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80358195(C;C) rs80358195(T;T)
Alt	rs80358195(C;C) rs80358195(T;T)
Reference	Rs80358195(G;G)
Significance	Pathogenic
Disease	Fucosidosis
Variation	info
Gene	FUCA1
CLNDBN	Fucosidosis
Reversed	1
HGVS	NC_000001.10:g.24175161C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000718.2,