rs372445155

Orientation

plus

Stabilized

plus

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

Make rs372445155(A;A)

Make rs372445155(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23554890

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs372445155
dbSNP (classic)	rs372445155
ClinGen	rs372445155
ebi	rs372445155
HLI	rs372445155
Exac	rs372445155
Gnomad	rs372445155
Varsome	rs372445155
LitVar	rs372445155
Map	rs372445155
PheGenI	rs372445155
Biobank	rs372445155
1000 genomes	rs372445155
hgdp	rs372445155
ensembl	rs372445155
geneview	rs372445155
scholar	rs372445155
google	rs372445155
pharmgkb	rs372445155
gwascentral	rs372445155
openSNP	rs372445155
23andMe	rs372445155
SNPshot	rs372445155
SNPdbe	rs372445155
MSV3d	rs372445155
GWAS Ctlg	rs372445155

Max Magnitude

0

ClinVar
Risk	rs372445155(A;A)
Alt	rs372445155(A;A)
Reference	Rs372445155(G;G)
Significance	Pathogenic
Disease	Ataxia Cataplexy Cognitive impairment Headache Postural instability Speech apraxia
Variation	info
Gene	NPC1
CLNDBN	Ataxia Cataplexy Cognitive impairment Headache Postural instability Speech apraxia
Reversed	0
HGVS	NC_000018.9:g.21134854G>A
CLNSRC
CLNACC	RCV000415065.1,