rs778700037

Orientation

plus

Stabilized

plus

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

Make rs778700037(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

80210933

Gene

SGSH

is a	snp
is	mentioned by
dbSNP	rs778700037
dbSNP (classic)	rs778700037
ClinGen	rs778700037
ebi	rs778700037
HLI	rs778700037
Exac	rs778700037
Gnomad	rs778700037
Varsome	rs778700037
LitVar	rs778700037
Map	rs778700037
PheGenI	rs778700037
Biobank	rs778700037
1000 genomes	rs778700037
hgdp	rs778700037
ensembl	rs778700037
geneview	rs778700037
scholar	rs778700037
google	rs778700037
pharmgkb	rs778700037
gwascentral	rs778700037
openSNP	rs778700037
23andMe	rs778700037
SNPshot	rs778700037
SNPdbe	rs778700037
MSV3d	rs778700037
GWAS Ctlg	rs778700037

Max Magnitude

3

aka c.1027dupC (p.Leu343Profs)

ClinVar
Risk	rs778700037(G;G)
Alt	rs778700037(G;G)
Reference	Rs778700037(-;-)
Significance	Pathogenic
Disease	Mucopolysaccharidosis not provided
Variation	info
Gene	SGSH
CLNDBN	Mucopolysaccharidosis, MPS-III-A not provided
Reversed	0
HGVS	NC_000017.10:g.78184733dupG
CLNSRC
CLNACC	RCV000180105.1, RCV000478433.1,