rs104893972

Orientation

minus

Stabilized

minus

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

Make rs104893972(G;G)

Make rs104893972(G;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

31862079

Gene

NEU1

is a	snp
is	mentioned by
dbSNP	rs104893972
dbSNP (classic)	rs104893972
ClinGen	rs104893972
ebi	rs104893972
HLI	rs104893972
Exac	rs104893972
Gnomad	rs104893972
Varsome	rs104893972
LitVar	rs104893972
Map	rs104893972
PheGenI	rs104893972
Biobank	rs104893972
1000 genomes	rs104893972
hgdp	rs104893972
ensembl	rs104893972
geneview	rs104893972
scholar	rs104893972
google	rs104893972
pharmgkb	rs104893972
gwascentral	rs104893972
openSNP	rs104893972
23andMe	rs104893972
SNPshot	rs104893972
SNPdbe	rs104893972
MSV3d	rs104893972
GWAS Ctlg	rs104893972

Max Magnitude

0

OMIM	608272
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104893972(G;G)
Alt	rs104893972(G;G)
Reference	Rs104893972(T;T)
Significance	Pathogenic
Disease	Sialidosis
Variation	info
Gene	NEU1
CLNDBN	Sialidosis, type II
Reversed	1
HGVS	NC_000006.11:g.31829856A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002548.2,