rs137854543

Orientation

plus

Stabilized

plus

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

Make rs137854543(A;G)

Make rs137854543(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

45897736

Gene

CTSA

is a	snp
is	mentioned by
dbSNP	rs137854543
dbSNP (classic)	rs137854543
ClinGen	rs137854543
ebi	rs137854543
HLI	rs137854543
Exac	rs137854543
Gnomad	rs137854543
Varsome	rs137854543
LitVar	rs137854543
Map	rs137854543
PheGenI	rs137854543
Biobank	rs137854543
1000 genomes	rs137854543
hgdp	rs137854543
ensembl	rs137854543
geneview	rs137854543
scholar	rs137854543
google	rs137854543
pharmgkb	rs137854543
gwascentral	rs137854543
openSNP	rs137854543
23andMe	rs137854543
SNPshot	rs137854543
SNPdbe	rs137854543
MSV3d	rs137854543
GWAS Ctlg	rs137854543

Max Magnitude

0

OMIM	613111
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137854543(G;G)
Alt	rs137854543(G;G)
Reference	Rs137854543(A;A)
Significance	Pathogenic
Disease	Combined deficiency of sialidase AND beta galactosidase
Variation	info
Gene	CTSA
CLNDBN	Combined deficiency of sialidase AND beta galactosidase
Reversed	0
HGVS	NC_000020.10:g.44526375A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000411.4,