rs104893986

Orientation

minus

Stabilized

minus

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

Make rs104893986(A;A)

Make rs104893986(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

31862708

Gene	NEU1, SLC44A4

is a	snp
is	mentioned by
dbSNP	rs104893986
dbSNP (classic)	rs104893986
ClinGen	rs104893986
ebi	rs104893986
HLI	rs104893986
Exac	rs104893986
Gnomad	rs104893986
Varsome	rs104893986
LitVar	rs104893986
Map	rs104893986
PheGenI	rs104893986
Biobank	rs104893986
1000 genomes	rs104893986
hgdp	rs104893986
ensembl	rs104893986
geneview	rs104893986
scholar	rs104893986
google	rs104893986
pharmgkb	rs104893986
gwascentral	rs104893986
openSNP	rs104893986
23andMe	rs104893986
SNPshot	rs104893986
SNPdbe	rs104893986
MSV3d	rs104893986
GWAS Ctlg	rs104893986

Max Magnitude

0

OMIM	608272
Desc
Variant	0016
Related	also

ClinVar
Risk	rs104893986(A;A)
Alt	rs104893986(A;A)
Reference	Rs104893986(G;G)
Significance	Pathogenic
Disease	Sialidosis
Variation	info
Gene	SLC44A4 NEU1
CLNDBN	Sialidosis, type II
Reversed	1
HGVS	NC_000006.11:g.31830485C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002562.2,