rs137854544

Orientation

plus

Stabilized

plus

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

Make rs137854544(A;A)

Make rs137854544(A;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

45894040

Gene

CTSA

is a	snp
is	mentioned by
dbSNP	rs137854544
dbSNP (classic)	rs137854544
ClinGen	rs137854544
ebi	rs137854544
HLI	rs137854544
Exac	rs137854544
Gnomad	rs137854544
Varsome	rs137854544
LitVar	rs137854544
Map	rs137854544
PheGenI	rs137854544
Biobank	rs137854544
1000 genomes	rs137854544
hgdp	rs137854544
ensembl	rs137854544
geneview	rs137854544
scholar	rs137854544
google	rs137854544
pharmgkb	rs137854544
gwascentral	rs137854544
openSNP	rs137854544
23andMe	rs137854544
SNPshot	rs137854544
SNPdbe	rs137854544
MSV3d	rs137854544
GWAS Ctlg	rs137854544

Max Magnitude

0

OMIM	613111
Desc
Variant	0007
Related	also

OMIM	613111
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137854544(A;A)
Alt	rs137854544(A;A)
Reference	Rs137854544(T;T)
Significance	Pathogenic
Disease	Combined deficiency of sialidase AND beta galactosidase Galactosialidosis
Variation	info
Gene	CTSA
CLNDBN	Combined deficiency of sialidase AND beta galactosidase Galactosialidosis, late infantile
Reversed	0
HGVS	NC_000020.10:g.44522679T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000412.3, RCV000000413.4,