rs104893979

Orientation

minus

Stabilized

minus

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

Make rs104893979(C;T)

Make rs104893979(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

31860117

Gene

NEU1

is a	snp
is	mentioned by
dbSNP	rs104893979
dbSNP (classic)	rs104893979
ClinGen	rs104893979
ebi	rs104893979
HLI	rs104893979
Exac	rs104893979
Gnomad	rs104893979
Varsome	rs104893979
LitVar	rs104893979
Map	rs104893979
PheGenI	rs104893979
Biobank	rs104893979
1000 genomes	rs104893979
hgdp	rs104893979
ensembl	rs104893979
geneview	rs104893979
scholar	rs104893979
google	rs104893979
pharmgkb	rs104893979
gwascentral	rs104893979
openSNP	rs104893979
23andMe	rs104893979
SNPshot	rs104893979
SNPdbe	rs104893979
MSV3d	rs104893979
GWAS Ctlg	rs104893979

Max Magnitude

0

OMIM	608272
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104893979(T;T)
Alt	rs104893979(T;T)
Reference	Rs104893979(C;C)
Significance	Pathogenic
Disease	Sialidosis type I
Variation	info
Gene	NEU1
CLNDBN	Sialidosis type I
Reversed	1
HGVS	NC_000006.11:g.31827894G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002558.2,