rs104893971

Orientation

minus

Stabilized

minus

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

Make rs104893971(G;T)

Make rs104893971(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

31859838

Gene

NEU1

is a	snp
is	mentioned by
dbSNP	rs104893971
dbSNP (classic)	rs104893971
ClinGen	rs104893971
ebi	rs104893971
HLI	rs104893971
Exac	rs104893971
Gnomad	rs104893971
Varsome	rs104893971
LitVar	rs104893971
Map	rs104893971
PheGenI	rs104893971
Biobank	rs104893971
1000 genomes	rs104893971
hgdp	rs104893971
ensembl	rs104893971
geneview	rs104893971
scholar	rs104893971
google	rs104893971
pharmgkb	rs104893971
gwascentral	rs104893971
openSNP	rs104893971
23andMe	rs104893971
SNPshot	rs104893971
SNPdbe	rs104893971
MSV3d	rs104893971
GWAS Ctlg	rs104893971

Max Magnitude

0

OMIM	608272
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104893971(T;T)
Alt	rs104893971(T;T)
Reference	Rs104893971(G;G)
Significance	Pathogenic
Disease	Sialidosis type I
Variation	info
Gene	NEU1
CLNDBN	Sialidosis type I
Reversed	1
HGVS	NC_000006.11:g.31827615C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002547.2,