rs1060499679

Orientation

minus

Stabilized

minus

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

Make rs1060499679(-;-)

Make rs1060499679(-;CCA)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

101770496

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs1060499679
dbSNP (classic)	rs1060499679
ClinGen	rs1060499679
ebi	rs1060499679
HLI	rs1060499679
Exac	rs1060499679
Gnomad	rs1060499679
Varsome	rs1060499679
LitVar	rs1060499679
Map	rs1060499679
PheGenI	rs1060499679
Biobank	rs1060499679
1000 genomes	rs1060499679
hgdp	rs1060499679
ensembl	rs1060499679
geneview	rs1060499679
scholar	rs1060499679
google	rs1060499679
pharmgkb	rs1060499679
gwascentral	rs1060499679
openSNP	rs1060499679
23andMe	rs1060499679
SNPshot	rs1060499679
SNPdbe	rs1060499679
MSV3d	rs1060499679
GWAS Ctlg	rs1060499679

Max Magnitude

0

ClinVar
Risk	rs1060499679(-;-)
Alt	rs1060499679(-;-)
Reference	Rs1060499679(CCA;CCA)
Significance	Probable-Pathogenic
Disease	I cell disease Pseudo-Hurler polydystrophy
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease Pseudo-Hurler polydystrophy
Reversed	1
HGVS	NC_000012.11:g.102164274_102164276delTGG
CLNSRC
CLNACC	RCV000449568.1,