rs121434533

Orientation

minus

Stabilized

minus

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

Make rs121434533(A;A)

Make rs121434533(A;G)

Reference

GRCh38 38.1/142

Chromosome

22

Position

42061039

Gene

NAGA

is a	snp
is	mentioned by
dbSNP	rs121434533
dbSNP (classic)	rs121434533
ClinGen	rs121434533
ebi	rs121434533
HLI	rs121434533
Exac	rs121434533
Gnomad	rs121434533
Varsome	rs121434533
LitVar	rs121434533
Map	rs121434533
PheGenI	rs121434533
Biobank	rs121434533
1000 genomes	rs121434533
hgdp	rs121434533
ensembl	rs121434533
geneview	rs121434533
scholar	rs121434533
google	rs121434533
pharmgkb	rs121434533
gwascentral	rs121434533
openSNP	rs121434533
23andMe	rs121434533
SNPshot	rs121434533
SNPdbe	rs121434533
MSV3d	rs121434533
GWAS Ctlg	rs121434533

GMAF

0.0004591

Max Magnitude

0

OMIM	104170
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121434533(A;A)
Alt	rs121434533(A;A)
Reference	Rs121434533(G;G)
Significance	Pathogenic
Disease	Kanzaki disease
Variation	info
Gene	NAGA
CLNDBN	Kanzaki disease
Reversed	1
HGVS	NC_000022.10:g.42457043C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019796.27,