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rs1057517077

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517077(C;T)
Make rs1057517077(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23554972
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057517077
dbSNP (old)rs1057517077
ClinGenrs1057517077
ebirs1057517077
HLIrs1057517077
Exacrs1057517077
Gnomadrs1057517077
Varsomers1057517077
Maprs1057517077
PheGenIrs1057517077
Biobankrs1057517077
1000 genomesrs1057517077
hgdprs1057517077
ensemblrs1057517077
gopubmedrs1057517077
geneviewrs1057517077
scholarrs1057517077
googlers1057517077
pharmgkbrs1057517077
gwascentralrs1057517077
openSNPrs1057517077
23andMers1057517077
23andMe allrs1057517077
SNPshotrs1057517077
SNPdbers1057517077
MSV3drs1057517077
GWAS Ctlgrs1057517077
Max Magnitude0
ClinVar
Risk rs1057517077(T;T)
Alt rs1057517077(T;T)
Reference Rs1057517077(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.21134936G>A
CLNSRC
CLNACC RCV000411431.1,