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rs1057517186

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517186(-;-)
Make rs1057517186(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23568889
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057517186
dbSNP (old)rs1057517186
ClinGenrs1057517186
ebirs1057517186
HLIrs1057517186
Exacrs1057517186
Gnomadrs1057517186
Varsomers1057517186
Maprs1057517186
PheGenIrs1057517186
Biobankrs1057517186
1000 genomesrs1057517186
hgdprs1057517186
ensemblrs1057517186
gopubmedrs1057517186
geneviewrs1057517186
scholarrs1057517186
googlers1057517186
pharmgkbrs1057517186
gwascentralrs1057517186
openSNPrs1057517186
23andMers1057517186
23andMe allrs1057517186
SNPshotrs1057517186
SNPdbers1057517186
MSV3drs1057517186
GWAS Ctlgrs1057517186
Max Magnitude0
ClinVar
Risk rs1057517186(-;-)
Alt rs1057517186(-;-)
Reference Rs1057517186(G;G)
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.21148853delC
CLNSRC
CLNACC RCV000410718.1,