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rs1057516462

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516462(-;-)
Make rs1057516462(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23568891
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057516462
dbSNP (old)rs1057516462
ClinGenrs1057516462
ebirs1057516462
HLIrs1057516462
Exacrs1057516462
Gnomadrs1057516462
Varsomers1057516462
LitVarrs1057516462
Maprs1057516462
PheGenIrs1057516462
Biobankrs1057516462
1000 genomesrs1057516462
hgdprs1057516462
ensemblrs1057516462
gopubmedrs1057516462
geneviewrs1057516462
scholarrs1057516462
googlers1057516462
pharmgkbrs1057516462
gwascentralrs1057516462
openSNPrs1057516462
23andMers1057516462
23andMe allrs1057516462
SNPshotrs1057516462
SNPdbers1057516462
MSV3drs1057516462
GWAS Ctlgrs1057516462
Max Magnitude0
ClinVar
Risk rs1057516462(-;-)
Alt rs1057516462(-;-)
Reference Rs1057516462(C;C)
Significance Probable-Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21148855delG
CLNSRC
CLNACC RCV000410028.1,