rs193922915

Orientation

minus

Stabilized

minus

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

Make rs193922915(C;C)

Make rs193922915(C;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

31859879

Gene

NEU1

is a	snp
is	mentioned by
dbSNP	rs193922915
dbSNP (classic)	rs193922915
ClinGen	rs193922915
ebi	rs193922915
HLI	rs193922915
Exac	rs193922915
Gnomad	rs193922915
Varsome	rs193922915
LitVar	rs193922915
Map	rs193922915
PheGenI	rs193922915
Biobank	rs193922915
1000 genomes	rs193922915
hgdp	rs193922915
ensembl	rs193922915
geneview	rs193922915
scholar	rs193922915
google	rs193922915
pharmgkb	rs193922915
gwascentral	rs193922915
openSNP	rs193922915
23andMe	rs193922915
SNPshot	rs193922915
SNPdbe	rs193922915
MSV3d	rs193922915
GWAS Ctlg	rs193922915

Max Magnitude

0

ClinVar
Risk	rs193922915(C;C)
Alt	rs193922915(C;C)
Reference	Rs193922915(T;T)
Significance	Pathogenic
Disease	Sialidosis
Variation	info
Gene	NEU1
CLNDBN	Sialidosis, type II
Reversed	1
HGVS	NC_000006.11:g.31827656A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002551.3,