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rs113371321

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113371321(A;A)
Make rs113371321(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23534477
GeneNPC1
is asnp
is mentioned by
dbSNPrs113371321
dbSNP (old)rs113371321
ClinGenrs113371321
ebirs113371321
HLIrs113371321
Exacrs113371321
Gnomadrs113371321
Varsomers113371321
Maprs113371321
PheGenIrs113371321
Biobankrs113371321
1000 genomesrs113371321
hgdprs113371321
ensemblrs113371321
gopubmedrs113371321
geneviewrs113371321
scholarrs113371321
googlers113371321
pharmgkbrs113371321
gwascentralrs113371321
openSNPrs113371321
23andMers113371321
23andMe allrs113371321
SNPshotrs113371321
SNPdbers113371321
MSV3drs113371321
GWAS Ctlgrs113371321
Max Magnitude0
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,