rs121434532

Orientation

minus

Stabilized

minus

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

Make rs121434532(C;G)

Make rs121434532(G;G)

Reference

GRCh38 38.1/142

Chromosome

22

Position

42067136

Gene	LOC107985551, NAGA

is a	snp
is	mentioned by
dbSNP	rs121434532
dbSNP (classic)	rs121434532
ClinGen	rs121434532
ebi	rs121434532
HLI	rs121434532
Exac	rs121434532
Gnomad	rs121434532
Varsome	rs121434532
LitVar	rs121434532
Map	rs121434532
PheGenI	rs121434532
Biobank	rs121434532
1000 genomes	rs121434532
hgdp	rs121434532
ensembl	rs121434532
geneview	rs121434532
scholar	rs121434532
google	rs121434532
pharmgkb	rs121434532
gwascentral	rs121434532
openSNP	rs121434532
23andMe	rs121434532
SNPshot	rs121434532
SNPdbe	rs121434532
MSV3d	rs121434532
GWAS Ctlg	rs121434532

GMAF

0.0009183

Max Magnitude

0

OMIM	104170
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121434532(G;G)
Alt	rs121434532(G;G)
Reference	Rs121434532(C;C)
Significance	Pathogenic
Disease	Schindler disease Schindler disease
Variation	info
Gene	NAGA
CLNDBN	Schindler disease, type 3 Schindler disease, type 1
Reversed	1
HGVS	NC_000022.10:g.42463140G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019795.26, RCV000169668.1,