Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517455

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517455(-;-)
Make rs1057517455(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23548052
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057517455
dbSNP (old)rs1057517455
ClinGenrs1057517455
ebirs1057517455
HLIrs1057517455
Exacrs1057517455
Gnomadrs1057517455
Varsomers1057517455
Maprs1057517455
PheGenIrs1057517455
Biobankrs1057517455
1000 genomesrs1057517455
hgdprs1057517455
ensemblrs1057517455
gopubmedrs1057517455
geneviewrs1057517455
scholarrs1057517455
googlers1057517455
pharmgkbrs1057517455
gwascentralrs1057517455
openSNPrs1057517455
23andMers1057517455
23andMe allrs1057517455
SNPshotrs1057517455
SNPdbers1057517455
MSV3drs1057517455
GWAS Ctlgrs1057517455
Max Magnitude0
ClinVar
Risk rs1057517455(-;-)
Alt rs1057517455(-;-)
Reference Rs1057517455(T;T)
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.21128016delA
CLNSRC
CLNACC RCV000412209.1,