rs797045010

Orientation

minus

Stabilized

minus

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

Make rs797045010(A;A)

Make rs797045010(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

33024297

Gene	GLB1, LOC107986073

is a	snp
is	mentioned by
dbSNP	rs797045010
dbSNP (classic)	rs797045010
ClinGen	rs797045010
ebi	rs797045010
HLI	rs797045010
Exac	rs797045010
Gnomad	rs797045010
Varsome	rs797045010
LitVar	rs797045010
Map	rs797045010
PheGenI	rs797045010
Biobank	rs797045010
1000 genomes	rs797045010
hgdp	rs797045010
ensembl	rs797045010
geneview	rs797045010
scholar	rs797045010
google	rs797045010
pharmgkb	rs797045010
gwascentral	rs797045010
openSNP	rs797045010
23andMe	rs797045010
SNPshot	rs797045010
SNPdbe	rs797045010
MSV3d	rs797045010
GWAS Ctlg	rs797045010

Max Magnitude

0

ClinVar
Risk	rs797045010(A;A)
Alt	rs797045010(A;A)
Reference	Rs797045010(C;C)
Significance	Probable-Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	TMPPE GLB1
CLNDBN	Mucopolysaccharidosis, MPS-IV-B
Reversed	1
HGVS	NC_000003.11:g.33065789G>T
CLNSRC
CLNACC	RCV000190508.2,