rs1085307112

Orientation

plus

Stabilized

plus

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

Chromosome

8

Position

43173728

Gene

HGSNAT

is a	snp
is	mentioned by
dbSNP	rs1085307112
dbSNP (classic)	rs1085307112
ClinGen	rs1085307112
ebi	rs1085307112
HLI	rs1085307112
Exac	rs1085307112
Gnomad	rs1085307112
Varsome	rs1085307112
LitVar	rs1085307112
Map	rs1085307112
PheGenI	rs1085307112
Biobank	rs1085307112
1000 genomes	rs1085307112
hgdp	rs1085307112
ensembl	rs1085307112
geneview	rs1085307112
scholar	rs1085307112
google	rs1085307112
pharmgkb	rs1085307112
gwascentral	rs1085307112
openSNP	rs1085307112
23andMe	rs1085307112
SNPshot	rs1085307112
SNPdbe	rs1085307112
MSV3d	rs1085307112
GWAS Ctlg	rs1085307112

Max Magnitude

0

ClinVar
Risk	rs1085307112(C;C)
Alt	rs1085307112(C;C)
Reference	Rs1085307112(A;A)
Significance	Probable-Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	HGSNAT
CLNDBN	Mucopolysaccharidosis, MPS-III-C
Reversed	0
HGVS	NC_000008.10:g.43028871A>C
CLNSRC
CLNACC	RCV000488421.1,