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rs1057516260

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516260(-;-)
Make rs1057516260(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23561362
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057516260
dbSNP (old)rs1057516260
ClinGenrs1057516260
ebirs1057516260
HLIrs1057516260
Exacrs1057516260
Gnomadrs1057516260
Varsomers1057516260
Maprs1057516260
PheGenIrs1057516260
Biobankrs1057516260
1000 genomesrs1057516260
hgdprs1057516260
ensemblrs1057516260
gopubmedrs1057516260
geneviewrs1057516260
scholarrs1057516260
googlers1057516260
pharmgkbrs1057516260
gwascentralrs1057516260
openSNPrs1057516260
23andMers1057516260
23andMe allrs1057516260
SNPshotrs1057516260
SNPdbers1057516260
MSV3drs1057516260
GWAS Ctlgrs1057516260
Max Magnitude0
ClinVar
Risk rs1057516260(-;-)
Alt rs1057516260(-;-)
Reference Rs1057516260(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.21141326delG
CLNSRC
CLNACC RCV000411046.1,