rs483352894

Orientation

plus

Stabilized

plus

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

Make rs483352894(-;G)

Make rs483352894(G;G)

Reference

GRCh38 38.1/142

Chromosome

8

Position

43192397

Gene

HGSNAT

is a	snp
is	mentioned by
dbSNP	rs483352894
dbSNP (classic)	rs483352894
ClinGen	rs483352894
ebi	rs483352894
HLI	rs483352894
Exac	rs483352894
Gnomad	rs483352894
Varsome	rs483352894
LitVar	rs483352894
Map	rs483352894
PheGenI	rs483352894
Biobank	rs483352894
1000 genomes	rs483352894
hgdp	rs483352894
ensembl	rs483352894
geneview	rs483352894
scholar	rs483352894
google	rs483352894
pharmgkb	rs483352894
gwascentral	rs483352894
openSNP	rs483352894
23andMe	rs483352894
SNPshot	rs483352894
SNPdbe	rs483352894
MSV3d	rs483352894
GWAS Ctlg	rs483352894

Max Magnitude

0

ClinVar
Risk	rs483352894(G;G)
Alt	rs483352894(G;G)
Reference	Rs483352894(-;-)
Significance	Pathogenic
Disease	Mucopolysaccharidosis Sanfilippo syndrome
Variation	info
Gene	HGSNAT
CLNDBN	Mucopolysaccharidosis, MPS-III-C Sanfilippo syndrome
Reversed	0
HGVS	NC_000008.10:g.43047541dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001290.3, RCV000345671.1,