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rs1057516603

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516603(-;-)
Make rs1057516603(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23539831
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057516603
dbSNP (classic)rs1057516603
ClinGenrs1057516603
ebirs1057516603
HLIrs1057516603
Exacrs1057516603
Gnomadrs1057516603
Varsomers1057516603
LitVarrs1057516603
Maprs1057516603
PheGenIrs1057516603
Biobankrs1057516603
1000 genomesrs1057516603
hgdprs1057516603
ensemblrs1057516603
geneviewrs1057516603
scholarrs1057516603
googlers1057516603
pharmgkbrs1057516603
gwascentralrs1057516603
openSNPrs1057516603
23andMers1057516603
23andMe allrs1057516603
SNPshotrs1057516603
SNPdbers1057516603
MSV3drs1057516603
GWAS Ctlgrs1057516603
Max Magnitude0
ClinVar
Risk rs1057516603(-;-)
Alt rs1057516603(-;-)
Reference Rs1057516603(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.21119795delG
CLNSRC
CLNACC RCV000411615.1,