rs398124397

Orientation

minus

Stabilized

minus

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

Make rs398124397(A;A)

Make rs398124397(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101768147

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs398124397
dbSNP (classic)	rs398124397
ClinGen	rs398124397
ebi	rs398124397
HLI	rs398124397
Exac	rs398124397
Gnomad	rs398124397
Varsome	rs398124397
LitVar	rs398124397
Map	rs398124397
PheGenI	rs398124397
Biobank	rs398124397
1000 genomes	rs398124397
hgdp	rs398124397
ensembl	rs398124397
geneview	rs398124397
scholar	rs398124397
google	rs398124397
pharmgkb	rs398124397
gwascentral	rs398124397
openSNP	rs398124397
23andMe	rs398124397
SNPshot	rs398124397
SNPdbe	rs398124397
MSV3d	rs398124397
GWAS Ctlg	rs398124397

Max Magnitude

0

ClinVar
Risk	rs398124397(A;A)
Alt	rs398124397(A;A)
Reference	Rs398124397(G;G)
Significance	Pathogenic
Disease	not provided I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	not provided I cell disease
Reversed	1
HGVS	NC_000012.11:g.102161925C>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000082187.3, RCV000174163.1,