rs113371321

Orientation

plus

Stabilized

plus

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

Make rs113371321(A;A)

Make rs113371321(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23534477

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs113371321
dbSNP (classic)	rs113371321
ClinGen	rs113371321
ebi	rs113371321
HLI	rs113371321
Exac	rs113371321
Gnomad	rs113371321
Varsome	rs113371321
LitVar	rs113371321
Map	rs113371321
PheGenI	rs113371321
Biobank	rs113371321
1000 genomes	rs113371321
hgdp	rs113371321
ensembl	rs113371321
geneview	rs113371321
scholar	rs113371321
google	rs113371321
pharmgkb	rs113371321
gwascentral	rs113371321
openSNP	rs113371321
23andMe	rs113371321
SNPshot	rs113371321
SNPdbe	rs113371321
MSV3d	rs113371321
GWAS Ctlg	rs113371321

Max Magnitude

0

ClinVar
Risk	rs113371321(A;A) rs113371321(C;C)
Alt	rs113371321(A;A) rs113371321(C;C)
Reference	Rs113371321(G;G)
Significance	Probable-Pathogenic
Disease	Dystonia
Variation	info
Gene	NPC1
CLNDBN	Dystonia
Reversed	0
HGVS	NC_000018.9:g.21114441G>C
CLNSRC
CLNACC	RCV000414757.1,