rs121908283

Orientation

plus

Stabilized

plus

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

Make rs121908283(G;G)

Make rs121908283(G;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

43178184

Gene

HGSNAT

is a	snp
is	mentioned by
dbSNP	rs121908283
dbSNP (classic)	rs121908283
ClinGen	rs121908283
ebi	rs121908283
HLI	rs121908283
Exac	rs121908283
Gnomad	rs121908283
Varsome	rs121908283
LitVar	rs121908283
Map	rs121908283
PheGenI	rs121908283
Biobank	rs121908283
1000 genomes	rs121908283
hgdp	rs121908283
ensembl	rs121908283
geneview	rs121908283
scholar	rs121908283
google	rs121908283
pharmgkb	rs121908283
gwascentral	rs121908283
openSNP	rs121908283
23andMe	rs121908283
SNPshot	rs121908283
SNPdbe	rs121908283
MSV3d	rs121908283
GWAS Ctlg	rs121908283

Max Magnitude

0

OMIM	610453
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908283(G;G)
Alt	rs121908283(G;G)
Reference	Rs121908283(T;T)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	HGSNAT
CLNDBN	Mucopolysaccharidosis, MPS-III-C
Reversed	0
HGVS	NC_000008.10:g.43033327T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001292.3,