rs387906224

Orientation

plus

Stabilized

plus

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

Make rs387906224(C;C)

Make rs387906224(C;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

45892849

Gene	CTSA, NEURL2

is a	snp
is	mentioned by
dbSNP	rs387906224
dbSNP (classic)	rs387906224
ClinGen	rs387906224
ebi	rs387906224
HLI	rs387906224
Exac	rs387906224
Gnomad	rs387906224
Varsome	rs387906224
LitVar	rs387906224
Map	rs387906224
PheGenI	rs387906224
Biobank	rs387906224
1000 genomes	rs387906224
hgdp	rs387906224
ensembl	rs387906224
geneview	rs387906224
scholar	rs387906224
google	rs387906224
pharmgkb	rs387906224
gwascentral	rs387906224
openSNP	rs387906224
23andMe	rs387906224
SNPshot	rs387906224
SNPdbe	rs387906224
MSV3d	rs387906224
GWAS Ctlg	rs387906224

Max Magnitude

0

ClinVar
Risk	rs387906224(C;C)
Alt	rs387906224(C;C)
Reference	Rs387906224(T;T)
Significance	Pathogenic
Disease	Galactosialidosis
Variation	info
Gene
CLNDBN	Galactosialidosis, early infantile
Reversed	0
HGVS	NC_000020.10:g.44521488T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000415.1,