rs104893980

Orientation

minus

Stabilized

minus

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

Make rs104893980(C;C)

Make rs104893980(C;G)

Reference

GRCh38 38.1/142

Chromosome

6

Position

31860563

Gene

NEU1

is a	snp
is	mentioned by
dbSNP	rs104893980
dbSNP (classic)	rs104893980
ClinGen	rs104893980
ebi	rs104893980
HLI	rs104893980
Exac	rs104893980
Gnomad	rs104893980
Varsome	rs104893980
LitVar	rs104893980
Map	rs104893980
PheGenI	rs104893980
Biobank	rs104893980
1000 genomes	rs104893980
hgdp	rs104893980
ensembl	rs104893980
geneview	rs104893980
scholar	rs104893980
google	rs104893980
pharmgkb	rs104893980
gwascentral	rs104893980
openSNP	rs104893980
23andMe	rs104893980
SNPshot	rs104893980
SNPdbe	rs104893980
MSV3d	rs104893980
GWAS Ctlg	rs104893980

Merged from

Rs28940584

Max Magnitude

0

OMIM	608272
Desc
Variant	0014
Related	also

ClinVar
Risk	rs104893980(A;A) rs104893980(C;C)
Alt	rs104893980(A;A) rs104893980(C;C)
Reference	Rs104893980(G;G)
Significance	Pathogenic
Disease	Sialidosis
Variation	info
Gene	NEU1
CLNDBN	Sialidosis, type II
Reversed	1
HGVS	NC_000006.11:g.31828340C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002560.2,