rs121908284

Orientation

plus

Stabilized

plus

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

Make rs121908284(A;A)

Make rs121908284(A;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

43193824

Gene

HGSNAT

is a	snp
is	mentioned by
dbSNP	rs121908284
dbSNP (classic)	rs121908284
ClinGen	rs121908284
ebi	rs121908284
HLI	rs121908284
Exac	rs121908284
Gnomad	rs121908284
Varsome	rs121908284
LitVar	rs121908284
Map	rs121908284
PheGenI	rs121908284
Biobank	rs121908284
1000 genomes	rs121908284
hgdp	rs121908284
ensembl	rs121908284
geneview	rs121908284
scholar	rs121908284
google	rs121908284
pharmgkb	rs121908284
gwascentral	rs121908284
openSNP	rs121908284
23andMe	rs121908284
SNPshot	rs121908284
SNPdbe	rs121908284
MSV3d	rs121908284
GWAS Ctlg	rs121908284

Max Magnitude

0

OMIM	610453
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121908284(A;A)
Alt	rs121908284(A;A)
Reference	Rs121908284(T;T)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	HGSNAT
CLNDBN	Mucopolysaccharidosis, MPS-III-C
Reversed	0
HGVS	NC_000008.10:g.43048967T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001293.4,