rs78347057

Orientation

plus

Stabilized

plus

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

Make rs78347057(G;T)

Make rs78347057(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101796744

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs78347057
dbSNP (classic)	rs78347057
ClinGen	rs78347057
ebi	rs78347057
HLI	rs78347057
Exac	rs78347057
Gnomad	rs78347057
Varsome	rs78347057
LitVar	rs78347057
Map	rs78347057
PheGenI	rs78347057
Biobank	rs78347057
1000 genomes	rs78347057
hgdp	rs78347057
ensembl	rs78347057
geneview	rs78347057
scholar	rs78347057
google	rs78347057
pharmgkb	rs78347057
gwascentral	rs78347057
openSNP	rs78347057
23andMe	rs78347057
SNPshot	rs78347057
SNPdbe	rs78347057
MSV3d	rs78347057
GWAS Ctlg	rs78347057

GMAF

0.0124

Max Magnitude

0

ClinVar
Risk	rs78347057(A;A) rs78347057(T;T)
Alt	rs78347057(A;A) rs78347057(T;T)
Reference	Rs78347057(G;G)
Significance	Pathogenic
Disease	I cell disease not provided Mucolipidosis
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease not provided Mucolipidosis, Type III Alpha/Beta Mucolipidosis, Type II
Reversed	0
HGVS	NC_000012.11:g.102190522G>A; NC_000012.11:g.102190522G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032296.1, RCV000224529.1, RCV000282952.1, RCV000379680.1,

[PMID 19617216] Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.