Have questions? Visit https://www.reddit.com/r/SNPedia

rs372445155

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs372445155(A;A)
Make rs372445155(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23554890
GeneNPC1
is asnp
is mentioned by
dbSNPrs372445155
dbSNP (classic)rs372445155
ClinGenrs372445155
ebirs372445155
HLIrs372445155
Exacrs372445155
Gnomadrs372445155
Varsomers372445155
LitVarrs372445155
Maprs372445155
PheGenIrs372445155
Biobankrs372445155
1000 genomesrs372445155
hgdprs372445155
ensemblrs372445155
geneviewrs372445155
scholarrs372445155
googlers372445155
pharmgkbrs372445155
gwascentralrs372445155
openSNPrs372445155
23andMers372445155
23andMe allrs372445155
SNPshotrs372445155
SNPdbers372445155
MSV3drs372445155
GWAS Ctlgrs372445155
Max Magnitude0
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,