rs104893977

Orientation

minus

Stabilized

minus

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

Make rs104893977(A;A)

Make rs104893977(A;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

31860458

Gene

NEU1

is a	snp
is	mentioned by
dbSNP	rs104893977
dbSNP (classic)	rs104893977
ClinGen	rs104893977
ebi	rs104893977
HLI	rs104893977
Exac	rs104893977
Gnomad	rs104893977
Varsome	rs104893977
LitVar	rs104893977
Map	rs104893977
PheGenI	rs104893977
Biobank	rs104893977
1000 genomes	rs104893977
hgdp	rs104893977
ensembl	rs104893977
geneview	rs104893977
scholar	rs104893977
google	rs104893977
pharmgkb	rs104893977
gwascentral	rs104893977
openSNP	rs104893977
23andMe	rs104893977
SNPshot	rs104893977
SNPdbe	rs104893977
MSV3d	rs104893977
GWAS Ctlg	rs104893977

Max Magnitude

0

OMIM	608272
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104893977(A;A)
Alt	rs104893977(A;A)
Reference	Rs104893977(T;T)
Significance	Pathogenic
Disease	Sialidosis
Variation	info
Gene	NEU1
CLNDBN	Sialidosis, type II
Reversed	1
HGVS	NC_000006.11:g.31828235A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002550.3,