rs104893985

Orientation

minus

Stabilized

minus

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

Make rs104893985(C;T)

Make rs104893985(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

31862112

Gene

NEU1

is a	snp
is	mentioned by
dbSNP	rs104893985
dbSNP (classic)	rs104893985
ClinGen	rs104893985
ebi	rs104893985
HLI	rs104893985
Exac	rs104893985
Gnomad	rs104893985
Varsome	rs104893985
LitVar	rs104893985
Map	rs104893985
PheGenI	rs104893985
Biobank	rs104893985
1000 genomes	rs104893985
hgdp	rs104893985
ensembl	rs104893985
geneview	rs104893985
scholar	rs104893985
google	rs104893985
pharmgkb	rs104893985
gwascentral	rs104893985
openSNP	rs104893985
23andMe	rs104893985
SNPshot	rs104893985
SNPdbe	rs104893985
MSV3d	rs104893985
GWAS Ctlg	rs104893985

Max Magnitude

0

OMIM	608272
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104893985(T;T)
Alt	rs104893985(T;T)
Reference	Rs104893985(C;C)
Significance	Pathogenic
Disease	Sialidosis
Variation	info
Gene	NEU1
CLNDBN	Sialidosis, type II
Reversed	1
HGVS	NC_000006.11:g.31829889G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002556.2,