rs281864961

Orientation

minus

Stabilized

minus

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

Make rs281864961(-;-)

Make rs281864961(-;AGGGG)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101780564

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281864961
dbSNP (classic)	rs281864961
ClinGen	rs281864961
ebi	rs281864961
HLI	rs281864961
Exac	rs281864961
Gnomad	rs281864961
Varsome	rs281864961
LitVar	rs281864961
Map	rs281864961
PheGenI	rs281864961
Biobank	rs281864961
1000 genomes	rs281864961
hgdp	rs281864961
ensembl	rs281864961
geneview	rs281864961
scholar	rs281864961
google	rs281864961
pharmgkb	rs281864961
gwascentral	rs281864961
openSNP	rs281864961
23andMe	rs281864961
SNPshot	rs281864961
SNPdbe	rs281864961
MSV3d	rs281864961
GWAS Ctlg	rs281864961

Max Magnitude

0

ClinVar
Risk	rs281864961(-;-)
Alt	rs281864961(-;-)
Reference	Rs281864961(AGGGG;AGGGG)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102174342_102174346delCCCCT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032351.1,

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