rs104894639

Orientation

minus

Stabilized

minus

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

Make rs104894639(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80210622

Gene

SGSH

is a	snp
is	mentioned by
dbSNP	rs104894639
dbSNP (classic)	rs104894639
ClinGen	rs104894639
ebi	rs104894639
HLI	rs104894639
Exac	rs104894639
Gnomad	rs104894639
Varsome	rs104894639
LitVar	rs104894639
Map	rs104894639
PheGenI	rs104894639
Biobank	rs104894639
1000 genomes	rs104894639
hgdp	rs104894639
ensembl	rs104894639
geneview	rs104894639
scholar	rs104894639
google	rs104894639
pharmgkb	rs104894639
gwascentral	rs104894639
openSNP	rs104894639
23andMe	rs104894639
SNPshot	rs104894639
SNPdbe	rs104894639
MSV3d	rs104894639
GWAS Ctlg	rs104894639

Max Magnitude

3

OMIM	605270
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894639(A;A)
Alt	rs104894639(A;A)
Reference	Rs104894639(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis not specified Sanfilippo syndrome not provided
Variation	info
Gene	SGSH
CLNDBN	Mucopolysaccharidosis, MPS-III-A not specified Sanfilippo syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.78184421C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005421.4, RCV000153943.3, RCV000351557.1, RCV000413635.1,