rs1057518644

Orientation

plus

Stabilized

plus

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

Make rs1057518644(C;T)

Make rs1057518644(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

43192413

Gene

HGSNAT

is a	snp
is	mentioned by
dbSNP	rs1057518644
dbSNP (classic)	rs1057518644
ClinGen	rs1057518644
ebi	rs1057518644
HLI	rs1057518644
Exac	rs1057518644
Gnomad	rs1057518644
Varsome	rs1057518644
LitVar	rs1057518644
Map	rs1057518644
PheGenI	rs1057518644
Biobank	rs1057518644
1000 genomes	rs1057518644
hgdp	rs1057518644
ensembl	rs1057518644
geneview	rs1057518644
scholar	rs1057518644
google	rs1057518644
pharmgkb	rs1057518644
gwascentral	rs1057518644
openSNP	rs1057518644
23andMe	rs1057518644
SNPshot	rs1057518644
SNPdbe	rs1057518644
MSV3d	rs1057518644
GWAS Ctlg	rs1057518644

Max Magnitude

0

ClinVar
Risk	rs1057518644(T;T)
Alt	rs1057518644(T;T)
Reference	Rs1057518644(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	HGSNAT
CLNDBN	Mucopolysaccharidosis, MPS-III-C
Reversed	0
HGVS	NC_000008.10:g.43047556C>T
CLNSRC
CLNACC	RCV000415469.1,