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rs1057518942

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518942(C;T)
Make rs1057518942(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23544424
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057518942
dbSNP (old)rs1057518942
ClinGenrs1057518942
ebirs1057518942
HLIrs1057518942
Exacrs1057518942
Gnomadrs1057518942
Varsomers1057518942
Maprs1057518942
PheGenIrs1057518942
Biobankrs1057518942
1000 genomesrs1057518942
hgdprs1057518942
ensemblrs1057518942
gopubmedrs1057518942
geneviewrs1057518942
scholarrs1057518942
googlers1057518942
pharmgkbrs1057518942
gwascentralrs1057518942
openSNPrs1057518942
23andMers1057518942
23andMe allrs1057518942
SNPshotrs1057518942
SNPdbers1057518942
MSV3drs1057518942
GWAS Ctlgrs1057518942
Max Magnitude0
ClinVar
Risk rs1057518942(T;T)
Alt rs1057518942(T;T)
Reference Rs1057518942(C;C)
Significance Probable-Pathogenic
Disease Dystonia
Variation info
Gene NPC1
CLNDBN Dystonia
Reversed 1
HGVS NC_000018.9:g.21124388G>A
CLNSRC
CLNACC RCV000415070.1,