rs281865017

Orientation

minus

Stabilized

minus

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

Make rs281865017(-;A)

Make rs281865017(A;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101757217

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281865017
dbSNP (classic)	rs281865017
ClinGen	rs281865017
ebi	rs281865017
HLI	rs281865017
Exac	rs281865017
Gnomad	rs281865017
Varsome	rs281865017
LitVar	rs281865017
Map	rs281865017
PheGenI	rs281865017
Biobank	rs281865017
1000 genomes	rs281865017
hgdp	rs281865017
ensembl	rs281865017
geneview	rs281865017
scholar	rs281865017
google	rs281865017
pharmgkb	rs281865017
gwascentral	rs281865017
openSNP	rs281865017
23andMe	rs281865017
SNPshot	rs281865017
SNPdbe	rs281865017
MSV3d	rs281865017
GWAS Ctlg	rs281865017

Max Magnitude

0

ClinVar
Risk	rs281865017(A;A)
Alt	rs281865017(A;A)
Reference	Rs281865017(-;-)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102150996dupT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032338.1,

[PMID 19197337] Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.