rs28940583

Orientation

minus

Stabilized

minus

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

Make rs28940583(A;A)

Make rs28940583(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

31860588

Gene

NEU1

is a	snp
is	mentioned by
dbSNP	rs28940583
dbSNP (classic)	rs28940583
ClinGen	rs28940583
ebi	rs28940583
HLI	rs28940583
Exac	rs28940583
Gnomad	rs28940583
Varsome	rs28940583
LitVar	rs28940583
Map	rs28940583
PheGenI	rs28940583
Biobank	rs28940583
1000 genomes	rs28940583
hgdp	rs28940583
ensembl	rs28940583
geneview	rs28940583
scholar	rs28940583
google	rs28940583
pharmgkb	rs28940583
gwascentral	rs28940583
openSNP	rs28940583
23andMe	rs28940583
SNPshot	rs28940583
SNPdbe	rs28940583
MSV3d	rs28940583
GWAS Ctlg	rs28940583

Merged from

Rs104893982

GMAF

0.0004591

Max Magnitude

0

OMIM	608272
Desc	SIALIDOSIS, TYPE I
Variant	0007
Related	also

ClinVar
Risk	rs28940583(A;A)
Alt	rs28940583(A;A)
Reference	Rs28940583(G;G)
Significance	Pathogenic
Disease	Sialidosis type I Sialidosis not provided
Variation	info
Gene	NEU1
CLNDBN	Sialidosis type I Sialidosis, type II not provided
Reversed	1
HGVS	NC_000006.11:g.31828365C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002553.3, RCV000361724.1, RCV000480504.1,