rs104893984

Orientation

minus

Stabilized

minus

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

Make rs104893984(A;A)

Make rs104893984(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

31862690

Gene

NEU1

is a	snp
is	mentioned by
dbSNP	rs104893984
dbSNP (classic)	rs104893984
ClinGen	rs104893984
ebi	rs104893984
HLI	rs104893984
Exac	rs104893984
Gnomad	rs104893984
Varsome	rs104893984
LitVar	rs104893984
Map	rs104893984
PheGenI	rs104893984
Biobank	rs104893984
1000 genomes	rs104893984
hgdp	rs104893984
ensembl	rs104893984
geneview	rs104893984
scholar	rs104893984
google	rs104893984
pharmgkb	rs104893984
gwascentral	rs104893984
openSNP	rs104893984
23andMe	rs104893984
SNPshot	rs104893984
SNPdbe	rs104893984
MSV3d	rs104893984
GWAS Ctlg	rs104893984

Max Magnitude

0

OMIM	608272
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104893984(A;A) rs104893984(C;C)
Alt	rs104893984(A;A) rs104893984(C;C)
Reference	Rs104893984(G;G)
Significance	Pathogenic
Disease	Sialidosis
Variation	info
Gene	NEU1
CLNDBN	Sialidosis, type II
Reversed	1
HGVS	NC_000006.11:g.31830467C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002555.3,