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rs1057518613

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1057518613(-;-)
Make rs1057518613(-;CT)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23541392
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057518613
dbSNP (old)rs1057518613
ClinGenrs1057518613
ebirs1057518613
HLIrs1057518613
Exacrs1057518613
Gnomadrs1057518613
Varsomers1057518613
Maprs1057518613
PheGenIrs1057518613
Biobankrs1057518613
1000 genomesrs1057518613
hgdprs1057518613
ensemblrs1057518613
gopubmedrs1057518613
geneviewrs1057518613
scholarrs1057518613
googlers1057518613
pharmgkbrs1057518613
gwascentralrs1057518613
openSNPrs1057518613
23andMers1057518613
23andMe allrs1057518613
SNPshotrs1057518613
SNPdbers1057518613
MSV3drs1057518613
GWAS Ctlgrs1057518613
Max Magnitude0
ClinVar
Risk rs1057518613(-;-)
Alt rs1057518613(-;-)
Reference Rs1057518613(CT;CT)
Significance Pathogenic
Disease not provided
Variation info
Gene NPC1
CLNDBN not provided
Reversed 1
HGVS NC_000018.9:g.21121356_21121357delAG
CLNSRC
CLNACC RCV000414321.1,