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rs1057516813

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516813(C;C)
Make rs1057516813(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23554985
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057516813
dbSNP (old)rs1057516813
ClinGenrs1057516813
ebirs1057516813
HLIrs1057516813
Exacrs1057516813
Gnomadrs1057516813
Varsomers1057516813
LitVarrs1057516813
Maprs1057516813
PheGenIrs1057516813
Biobankrs1057516813
1000 genomesrs1057516813
hgdprs1057516813
ensemblrs1057516813
gopubmedrs1057516813
geneviewrs1057516813
scholarrs1057516813
googlers1057516813
pharmgkbrs1057516813
gwascentralrs1057516813
openSNPrs1057516813
23andMers1057516813
23andMe allrs1057516813
SNPshotrs1057516813
SNPdbers1057516813
MSV3drs1057516813
GWAS Ctlgrs1057516813
Max Magnitude0
ClinVar
Risk rs1057516813(C;C)
Alt rs1057516813(C;C)
Reference Rs1057516813(G;G)
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.21134949C>G
CLNSRC
CLNACC RCV000409528.1,