rs875989952

Orientation

minus

Stabilized

minus

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

Make rs875989952(A;G)

Make rs875989952(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

101757659

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs875989952
dbSNP (classic)	rs875989952
ClinGen	rs875989952
ebi	rs875989952
HLI	rs875989952
Exac	rs875989952
Gnomad	rs875989952
Varsome	rs875989952
LitVar	rs875989952
Map	rs875989952
PheGenI	rs875989952
Biobank	rs875989952
1000 genomes	rs875989952
hgdp	rs875989952
ensembl	rs875989952
geneview	rs875989952
scholar	rs875989952
google	rs875989952
pharmgkb	rs875989952
gwascentral	rs875989952
openSNP	rs875989952
23andMe	rs875989952
SNPshot	rs875989952
SNPdbe	rs875989952
MSV3d	rs875989952
GWAS Ctlg	rs875989952

Max Magnitude

0

ClinVar
Risk	rs875989952(G;G)
Alt	rs875989952(G;G)
Reference	Rs875989952(A;A)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102151437T>C
CLNSRC
CLNACC	RCV000211681.2,