rs1060499687

Orientation

minus

Stabilized

minus

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

Make rs1060499687(AT;AT)

Make rs1060499687(AT;GC)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

101757657

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs1060499687
dbSNP (classic)	rs1060499687
ClinGen	rs1060499687
ebi	rs1060499687
HLI	rs1060499687
Exac	rs1060499687
Gnomad	rs1060499687
Varsome	rs1060499687
LitVar	rs1060499687
Map	rs1060499687
PheGenI	rs1060499687
Biobank	rs1060499687
1000 genomes	rs1060499687
hgdp	rs1060499687
ensembl	rs1060499687
geneview	rs1060499687
scholar	rs1060499687
google	rs1060499687
pharmgkb	rs1060499687
gwascentral	rs1060499687
openSNP	rs1060499687
23andMe	rs1060499687
SNPshot	rs1060499687
SNPdbe	rs1060499687
MSV3d	rs1060499687
GWAS Ctlg	rs1060499687

Max Magnitude

0

ClinVar
Risk	rs1060499687(AT;AT)
Alt	rs1060499687(AT;AT)
Reference	Rs1060499687(GC;GC)
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.102151435_102151436delGCinsAT
CLNSRC
CLNACC	RCV000449494.1,