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rs1057518711

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518711(-;-)
Make rs1057518711(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23560273
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057518711
dbSNP (old)rs1057518711
ClinGenrs1057518711
ebirs1057518711
HLIrs1057518711
Exacrs1057518711
Gnomadrs1057518711
Varsomers1057518711
LitVarrs1057518711
Maprs1057518711
PheGenIrs1057518711
Biobankrs1057518711
1000 genomesrs1057518711
hgdprs1057518711
ensemblrs1057518711
gopubmedrs1057518711
geneviewrs1057518711
scholarrs1057518711
googlers1057518711
pharmgkbrs1057518711
gwascentralrs1057518711
openSNPrs1057518711
23andMers1057518711
23andMe allrs1057518711
SNPshotrs1057518711
SNPdbers1057518711
MSV3drs1057518711
GWAS Ctlgrs1057518711
Max Magnitude0
ClinVar
Risk rs1057518711(-;-)
Alt rs1057518711(-;-)
Reference Rs1057518711(T;T)
Significance Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21140237delA
CLNSRC
CLNACC RCV000415044.1,