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rs1057517005

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517005(A;G)
Make rs1057517005(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23586343
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057517005
dbSNP (old)rs1057517005
ClinGenrs1057517005
ebirs1057517005
HLIrs1057517005
Exacrs1057517005
Gnomadrs1057517005
Varsomers1057517005
Maprs1057517005
PheGenIrs1057517005
Biobankrs1057517005
1000 genomesrs1057517005
hgdprs1057517005
ensemblrs1057517005
gopubmedrs1057517005
geneviewrs1057517005
scholarrs1057517005
googlers1057517005
pharmgkbrs1057517005
gwascentralrs1057517005
openSNPrs1057517005
23andMers1057517005
23andMe allrs1057517005
SNPshotrs1057517005
SNPdbers1057517005
MSV3drs1057517005
GWAS Ctlgrs1057517005
Max Magnitude0
ClinVar
Risk rs1057517005(G;G)
Alt rs1057517005(G;G)
Reference Rs1057517005(A;A)
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.21166307T>C
CLNSRC
CLNACC RCV000412029.1,