rs28934603

Orientation

plus

Stabilized

plus

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

Make rs28934603(C;C)

Make rs28934603(C;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

45891761

Gene	CTSA, NEURL2

is a	snp
is	mentioned by
dbSNP	rs28934603
dbSNP (classic)	rs28934603
ClinGen	rs28934603
ebi	rs28934603
HLI	rs28934603
Exac	rs28934603
Gnomad	rs28934603
Varsome	rs28934603
LitVar	rs28934603
Map	rs28934603
PheGenI	rs28934603
Biobank	rs28934603
1000 genomes	rs28934603
hgdp	rs28934603
ensembl	rs28934603
geneview	rs28934603
scholar	rs28934603
google	rs28934603
pharmgkb	rs28934603
gwascentral	rs28934603
openSNP	rs28934603
23andMe	rs28934603
SNPshot	rs28934603
SNPdbe	rs28934603
MSV3d	rs28934603
GWAS Ctlg	rs28934603

Max Magnitude

0

OMIM	256540
Desc	GALACTOSIALIDOSIS
Variant	0004
Related	also

OMIM	613111
Desc
Variant	0004
Related	also

ClinVar
Risk	rs28934603(C;C)
Alt	rs28934603(C;C)
Reference	Rs28934603(T;T)
Significance	Pathogenic
Disease	Combined deficiency of sialidase AND beta galactosidase
Variation	info
Gene	CTSA NEURL2
CLNDBN	Combined deficiency of sialidase AND beta galactosidase
Reversed	0
HGVS	NC_000020.10:g.44520400T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000409.4,