rs137854547

Orientation

plus

Stabilized

plus

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

Make rs137854547(A;A)

Make rs137854547(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

45898065

Gene

CTSA

is a	snp
is	mentioned by
dbSNP	rs137854547
dbSNP (classic)	rs137854547
ClinGen	rs137854547
ebi	rs137854547
HLI	rs137854547
Exac	rs137854547
Gnomad	rs137854547
Varsome	rs137854547
LitVar	rs137854547
Map	rs137854547
PheGenI	rs137854547
Biobank	rs137854547
1000 genomes	rs137854547
hgdp	rs137854547
ensembl	rs137854547
geneview	rs137854547
scholar	rs137854547
google	rs137854547
pharmgkb	rs137854547
gwascentral	rs137854547
openSNP	rs137854547
23andMe	rs137854547
SNPshot	rs137854547
SNPdbe	rs137854547
MSV3d	rs137854547
GWAS Ctlg	rs137854547

Max Magnitude

0

OMIM	613111
Desc
Variant	0011
Related	also

ClinVar
Risk	rs137854547(A;A)
Alt	rs137854547(A;A)
Reference	Rs137854547(G;G)
Significance	Pathogenic
Disease	Galactosialidosis
Variation	info
Gene	CTSA
CLNDBN	Galactosialidosis, early infantile
Reversed	0
HGVS	NC_000020.10:g.44526704G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000416.3,