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rs1057516749

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516749(C;T)
Make rs1057516749(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23568853
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057516749
dbSNP (old)rs1057516749
ClinGenrs1057516749
ebirs1057516749
HLIrs1057516749
Exacrs1057516749
Gnomadrs1057516749
Varsomers1057516749
LitVarrs1057516749
Maprs1057516749
PheGenIrs1057516749
Biobankrs1057516749
1000 genomesrs1057516749
hgdprs1057516749
ensemblrs1057516749
gopubmedrs1057516749
geneviewrs1057516749
scholarrs1057516749
googlers1057516749
pharmgkbrs1057516749
gwascentralrs1057516749
openSNPrs1057516749
23andMers1057516749
23andMe allrs1057516749
SNPshotrs1057516749
SNPdbers1057516749
MSV3drs1057516749
GWAS Ctlgrs1057516749
Max Magnitude0
ClinVar
Risk rs1057516749(T;T)
Alt rs1057516749(T;T)
Reference Rs1057516749(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.21148817G>A
CLNSRC
CLNACC RCV000411904.1,