rs121434530

Orientation

minus

Stabilized

minus

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

Make rs121434530(C;T)

Make rs121434530(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

42061040

Gene

NAGA

is a	snp
is	mentioned by
dbSNP	rs121434530
dbSNP (classic)	rs121434530
ClinGen	rs121434530
ebi	rs121434530
HLI	rs121434530
Exac	rs121434530
Gnomad	rs121434530
Varsome	rs121434530
LitVar	rs121434530
Map	rs121434530
PheGenI	rs121434530
Biobank	rs121434530
1000 genomes	rs121434530
hgdp	rs121434530
ensembl	rs121434530
geneview	rs121434530
scholar	rs121434530
google	rs121434530
pharmgkb	rs121434530
gwascentral	rs121434530
openSNP	rs121434530
23andMe	rs121434530
SNPshot	rs121434530
SNPdbe	rs121434530
MSV3d	rs121434530
GWAS Ctlg	rs121434530

Max Magnitude

0

OMIM	104170
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434530(T;T)
Alt	rs121434530(T;T)
Reference	Rs121434530(C;C)
Significance	Pathogenic
Disease	Kanzaki disease
Variation	info
Gene	NAGA
CLNDBN	Kanzaki disease
Reversed	1
HGVS	NC_000022.10:g.42457044G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019793.27,