rs104894636

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a Sanfilippo syndrome type A mutation

Make rs104894636(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80217061

Gene

SGSH

is a	snp
is	mentioned by
dbSNP	rs104894636
dbSNP (classic)	rs104894636
ClinGen	rs104894636
ebi	rs104894636
HLI	rs104894636
Exac	rs104894636
Gnomad	rs104894636
Varsome	rs104894636
LitVar	rs104894636
Map	rs104894636
PheGenI	rs104894636
Biobank	rs104894636
1000 genomes	rs104894636
hgdp	rs104894636
ensembl	rs104894636
geneview	rs104894636
scholar	rs104894636
google	rs104894636
pharmgkb	rs104894636
gwascentral	rs104894636
openSNP	rs104894636
23andMe	rs104894636
SNPshot	rs104894636
SNPdbe	rs104894636
MSV3d	rs104894636
GWAS Ctlg	rs104894636

Max Magnitude

3

OMIM	605270
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894636(T;T)
Alt	rs104894636(T;T)
Reference	Rs104894636(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis not provided
Variation	info
Gene	SGSH
CLNDBN	Mucopolysaccharidosis, MPS-III-A not provided
Reversed	1
HGVS	NC_000017.10:g.78190860G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005415.5, RCV000078354.5,