Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516950

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1057516950(-;-)
Make rs1057516950(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23556535
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057516950
dbSNP (old)rs1057516950
ClinGenrs1057516950
ebirs1057516950
HLIrs1057516950
Exacrs1057516950
Gnomadrs1057516950
Varsomers1057516950
Maprs1057516950
PheGenIrs1057516950
Biobankrs1057516950
1000 genomesrs1057516950
hgdprs1057516950
ensemblrs1057516950
gopubmedrs1057516950
geneviewrs1057516950
scholarrs1057516950
googlers1057516950
pharmgkbrs1057516950
gwascentralrs1057516950
openSNPrs1057516950
23andMers1057516950
23andMe allrs1057516950
SNPshotrs1057516950
SNPdbers1057516950
MSV3drs1057516950
GWAS Ctlgrs1057516950
Max Magnitude0
ClinVar
Risk rs1057516950(-;-)
Alt rs1057516950(-;-)
Reference Rs1057516950(TT;TT)
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.21136499_21136500delAA
CLNSRC
CLNACC RCV000408988.1,