rs777956287

Orientation

plus

Stabilized

plus

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

Make rs777956287(-;-)

Make rs777956287(-;C)

Reference

GRCh38.p7 38.3/149

Chromosome

17

Position

80210826

Gene

SGSH

is a	snp
is	mentioned by
dbSNP	rs777956287
dbSNP (classic)	rs777956287
ClinGen	rs777956287
ebi	rs777956287
HLI	rs777956287
Exac	rs777956287
Gnomad	rs777956287
Varsome	rs777956287
LitVar	rs777956287
Map	rs777956287
PheGenI	rs777956287
Biobank	rs777956287
1000 genomes	rs777956287
hgdp	rs777956287
ensembl	rs777956287
geneview	rs777956287
scholar	rs777956287
google	rs777956287
pharmgkb	rs777956287
gwascentral	rs777956287
openSNP	rs777956287
23andMe	rs777956287
SNPshot	rs777956287
SNPdbe	rs777956287
MSV3d	rs777956287
GWAS Ctlg	rs777956287

Max Magnitude

0

ClinVar
Risk	rs777956287(-;-)
Alt	rs777956287(-;-)
Reference	Rs777956287(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis Sanfilippo syndrome
Variation	info
Gene	SGSH
CLNDBN	Mucopolysaccharidosis, MPS-III-A Sanfilippo syndrome
Reversed	0
HGVS	NC_000017.10:g.78184625delC
CLNSRC	Illumina
CLNACC	RCV000259896.1, RCV000266557.1,