rs104893983

Orientation

minus

Stabilized

minus

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

Make rs104893983(A;A)

Make rs104893983(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

31860510

Gene

NEU1

is a	snp
is	mentioned by
dbSNP	rs104893983
dbSNP (classic)	rs104893983
ClinGen	rs104893983
ebi	rs104893983
HLI	rs104893983
Exac	rs104893983
Gnomad	rs104893983
Varsome	rs104893983
LitVar	rs104893983
Map	rs104893983
PheGenI	rs104893983
Biobank	rs104893983
1000 genomes	rs104893983
hgdp	rs104893983
ensembl	rs104893983
geneview	rs104893983
scholar	rs104893983
google	rs104893983
pharmgkb	rs104893983
gwascentral	rs104893983
openSNP	rs104893983
23andMe	rs104893983
SNPshot	rs104893983
SNPdbe	rs104893983
MSV3d	rs104893983
GWAS Ctlg	rs104893983

Max Magnitude

0

OMIM	608272
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104893983(A;A)
Alt	rs104893983(A;A)
Reference	Rs104893983(G;G)
Significance	Pathogenic
Disease	Sialidosis type I not provided
Variation	info
Gene	NEU1
CLNDBN	Sialidosis type I not provided
Reversed	1
HGVS	NC_000006.11:g.31828287C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002554.3, RCV000078816.4,