rs761850746

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	3	Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation
(C;T)	3	Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation

Make rs761850746(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

16

Position

88835212

Gene

GALNS

is a	snp
is	mentioned by
dbSNP	rs761850746
dbSNP (classic)	rs761850746
ClinGen	rs761850746
ebi	rs761850746
HLI	rs761850746
Exac	rs761850746
Gnomad	rs761850746
Varsome	rs761850746
LitVar	rs761850746
Map	rs761850746
PheGenI	rs761850746
Biobank	rs761850746
1000 genomes	rs761850746
hgdp	rs761850746
ensembl	rs761850746
geneview	rs761850746
scholar	rs761850746
google	rs761850746
pharmgkb	rs761850746
gwascentral	rs761850746
openSNP	rs761850746
23andMe	rs761850746
SNPshot	rs761850746
SNPdbe	rs761850746
MSV3d	rs761850746
GWAS Ctlg	rs761850746

Max Magnitude

3

aka c.898+1G>A as well as c.898+1G>C

ClinVar
Risk	rs761850746(G;G) rs761850746(T;T)
Alt	rs761850746(G;G) rs761850746(T;T)
Reference	Rs761850746(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	GALNS
CLNDBN	Mucopolysaccharidosis, MPS-IV-A
Reversed	0
HGVS	NC_000016.9:g.88901620C>G
CLNSRC
CLNACC	RCV000210353.1,