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rs369368181

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs369368181(A;A)
Make rs369368181(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23551653
GeneNPC1
is asnp
is mentioned by
dbSNPrs369368181
dbSNP (classic)rs369368181
ClinGenrs369368181
ebirs369368181
HLIrs369368181
Exacrs369368181
Gnomadrs369368181
Varsomers369368181
LitVarrs369368181
Maprs369368181
PheGenIrs369368181
Biobankrs369368181
1000 genomesrs369368181
hgdprs369368181
ensemblrs369368181
geneviewrs369368181
scholarrs369368181
googlers369368181
pharmgkbrs369368181
gwascentralrs369368181
openSNPrs369368181
23andMers369368181
23andMe allrs369368181
SNPshotrs369368181
SNPdbers369368181
MSV3drs369368181
GWAS Ctlgrs369368181
Max Magnitude0
ClinVar
Risk rs369368181(A;A)
Alt rs369368181(A;A)
Reference Rs369368181(G;G)
Significance Probable-Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 0
HGVS NC_000018.9:g.21131617G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000158970.4,