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rs1057517978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517978(G;G)
Make rs1057517978(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23539417
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057517978
dbSNP (old)rs1057517978
ClinGenrs1057517978
ebirs1057517978
HLIrs1057517978
Exacrs1057517978
Gnomadrs1057517978
Varsomers1057517978
LitVarrs1057517978
Maprs1057517978
PheGenIrs1057517978
Biobankrs1057517978
1000 genomesrs1057517978
hgdprs1057517978
ensemblrs1057517978
gopubmedrs1057517978
geneviewrs1057517978
scholarrs1057517978
googlers1057517978
pharmgkbrs1057517978
gwascentralrs1057517978
openSNPrs1057517978
23andMers1057517978
23andMe allrs1057517978
SNPshotrs1057517978
SNPdbers1057517978
MSV3drs1057517978
GWAS Ctlgrs1057517978
Max Magnitude0
ClinVar
Risk rs1057517978(G;G)
Alt rs1057517978(G;G)
Reference Rs1057517978(T;T)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene NPC1
CLNDBN not provided
Reversed 1
HGVS NC_000018.9:g.21119381A>C
CLNSRC
CLNACC RCV000414206.1,