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rs1057517074

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517074(-;-)
Make rs1057517074(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23560260
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057517074
dbSNP (old)rs1057517074
ClinGenrs1057517074
ebirs1057517074
HLIrs1057517074
Exacrs1057517074
Gnomadrs1057517074
Varsomers1057517074
Maprs1057517074
PheGenIrs1057517074
Biobankrs1057517074
1000 genomesrs1057517074
hgdprs1057517074
ensemblrs1057517074
gopubmedrs1057517074
geneviewrs1057517074
scholarrs1057517074
googlers1057517074
pharmgkbrs1057517074
gwascentralrs1057517074
openSNPrs1057517074
23andMers1057517074
23andMe allrs1057517074
SNPshotrs1057517074
SNPdbers1057517074
MSV3drs1057517074
GWAS Ctlgrs1057517074
Max Magnitude0
ClinVar
Risk rs1057517074(-;-)
Alt rs1057517074(-;-)
Reference Rs1057517074(T;T)
Significance Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21140224delA
CLNSRC
CLNACC RCV000409772.1,