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rs1057516647

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGGAGTT;TGGAGTT) 0 common in clinvar
Make rs1057516647(-;-)
Make rs1057516647(-;TGGAGTT)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23535523
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057516647
dbSNP (old)rs1057516647
ClinGenrs1057516647
ebirs1057516647
HLIrs1057516647
Exacrs1057516647
Gnomadrs1057516647
Varsomers1057516647
Maprs1057516647
PheGenIrs1057516647
Biobankrs1057516647
1000 genomesrs1057516647
hgdprs1057516647
ensemblrs1057516647
gopubmedrs1057516647
geneviewrs1057516647
scholarrs1057516647
googlers1057516647
pharmgkbrs1057516647
gwascentralrs1057516647
openSNPrs1057516647
23andMers1057516647
23andMe allrs1057516647
SNPshotrs1057516647
SNPdbers1057516647
MSV3drs1057516647
GWAS Ctlgrs1057516647
Max Magnitude0
ClinVar
Risk rs1057516647(-;-)
Alt rs1057516647(-;-)
Reference Rs1057516647(TGGAGTT;TGGAGTT)
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.21115487_21115493delAACTCCA
CLNSRC
CLNACC RCV000412135.1,