rs104893978

Orientation

minus

Stabilized

minus

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

Make rs104893978(C;C)

Make rs104893978(C;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

31860519

Gene

NEU1

is a	snp
is	mentioned by
dbSNP	rs104893978
dbSNP (classic)	rs104893978
ClinGen	rs104893978
ebi	rs104893978
HLI	rs104893978
Exac	rs104893978
Gnomad	rs104893978
Varsome	rs104893978
LitVar	rs104893978
Map	rs104893978
PheGenI	rs104893978
Biobank	rs104893978
1000 genomes	rs104893978
hgdp	rs104893978
ensembl	rs104893978
geneview	rs104893978
scholar	rs104893978
google	rs104893978
pharmgkb	rs104893978
gwascentral	rs104893978
openSNP	rs104893978
23andMe	rs104893978
SNPshot	rs104893978
SNPdbe	rs104893978
MSV3d	rs104893978
GWAS Ctlg	rs104893978

Max Magnitude

0

OMIM	608272
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104893978(C;C)
Alt	rs104893978(C;C)
Reference	Rs104893978(T;T)
Significance	Pathogenic
Disease	Sialidosis
Variation	info
Gene	NEU1
CLNDBN	Sialidosis, type II
Reversed	1
HGVS	NC_000006.11:g.31828296A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002557.3,