rs794727625

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;T)	3	Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation
(T;T)	0	common in clinvar

Make rs794727625(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

88840993

Gene

GALNS

is a	snp
is	mentioned by
dbSNP	rs794727625
dbSNP (classic)	rs794727625
ClinGen	rs794727625
ebi	rs794727625
HLI	rs794727625
Exac	rs794727625
Gnomad	rs794727625
Varsome	rs794727625
LitVar	rs794727625
Map	rs794727625
PheGenI	rs794727625
Biobank	rs794727625
1000 genomes	rs794727625
hgdp	rs794727625
ensembl	rs794727625
geneview	rs794727625
scholar	rs794727625
google	rs794727625
pharmgkb	rs794727625
gwascentral	rs794727625
openSNP	rs794727625
23andMe	rs794727625
SNPshot	rs794727625
SNPdbe	rs794727625
MSV3d	rs794727625
GWAS Ctlg	rs794727625

Max Magnitude

3

ClinVar
Risk	rs794727625(A;A)
Alt	rs794727625(A;A)
Reference	Rs794727625(T;T)
Significance	Pathogenic
Disease	Mucopolysaccharidosis Morquio syndrome
Variation	info
Gene	GALNS
CLNDBN	Mucopolysaccharidosis, MPS-IV-A Morquio syndrome
Reversed	1
HGVS	NC_000016.9:g.88907401A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000178107.1, RCV000282371.1,