rs1057521801

Orientation

minus

Stabilized

minus

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

Make rs1057521801(C;C)

Make rs1057521801(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80213876

Gene

SGSH

is a	snp
is	mentioned by
dbSNP	rs1057521801
dbSNP (classic)	rs1057521801
ClinGen	rs1057521801
ebi	rs1057521801
HLI	rs1057521801
Exac	rs1057521801
Gnomad	rs1057521801
Varsome	rs1057521801
LitVar	rs1057521801
Map	rs1057521801
PheGenI	rs1057521801
Biobank	rs1057521801
1000 genomes	rs1057521801
hgdp	rs1057521801
ensembl	rs1057521801
geneview	rs1057521801
scholar	rs1057521801
google	rs1057521801
pharmgkb	rs1057521801
gwascentral	rs1057521801
openSNP	rs1057521801
23andMe	rs1057521801
SNPshot	rs1057521801
SNPdbe	rs1057521801
MSV3d	rs1057521801
GWAS Ctlg	rs1057521801

Max Magnitude

0

ClinVar
Risk	rs1057521801(C;C)
Alt	rs1057521801(C;C)
Reference	Rs1057521801(T;T)
Significance	Pathogenic
Disease	not provided Mucopolysaccharidosis
Variation	info
Gene	SGSH
CLNDBN	not provided Mucopolysaccharidosis, MPS-III-A
Reversed	1
HGVS	NC_000017.10:g.78187675A>G
CLNSRC
CLNACC	RCV000426187.1, RCV000489872.1,