rs193066451

Orientation

plus

Stabilized

plus

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

Make rs193066451(A;A)

Make rs193066451(A;G)

Reference

GRCh38 38.1/142

Chromosome

8

Position

43159045

Gene

HGSNAT

is a	snp
is	mentioned by
dbSNP	rs193066451
dbSNP (classic)	rs193066451
ClinGen	rs193066451
ebi	rs193066451
HLI	rs193066451
Exac	rs193066451
Gnomad	rs193066451
Varsome	rs193066451
LitVar	rs193066451
Map	rs193066451
PheGenI	rs193066451
Biobank	rs193066451
1000 genomes	rs193066451
hgdp	rs193066451
ensembl	rs193066451
geneview	rs193066451
scholar	rs193066451
google	rs193066451
pharmgkb	rs193066451
gwascentral	rs193066451
openSNP	rs193066451
23andMe	rs193066451
SNPshot	rs193066451
SNPdbe	rs193066451
MSV3d	rs193066451
GWAS Ctlg	rs193066451

Max Magnitude

0

ClinVar
Risk	rs193066451(A;A)
Alt	rs193066451(A;A)
Reference	Rs193066451(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	HGSNAT
CLNDBN	Mucopolysaccharidosis, MPS-III-C
Reversed	0
HGVS	NC_000008.10:g.43014188G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001289.4,