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rs1057517194

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517194(-;T)
Make rs1057517194(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23535636
GeneNPC1
is asnp
is mentioned by
dbSNPrs1057517194
dbSNP (old)rs1057517194
ClinGenrs1057517194
ebirs1057517194
HLIrs1057517194
Exacrs1057517194
Gnomadrs1057517194
Varsomers1057517194
LitVarrs1057517194
Maprs1057517194
PheGenIrs1057517194
Biobankrs1057517194
1000 genomesrs1057517194
hgdprs1057517194
ensemblrs1057517194
gopubmedrs1057517194
geneviewrs1057517194
scholarrs1057517194
googlers1057517194
pharmgkbrs1057517194
gwascentralrs1057517194
openSNPrs1057517194
23andMers1057517194
23andMe allrs1057517194
SNPshotrs1057517194
SNPdbers1057517194
MSV3drs1057517194
GWAS Ctlgrs1057517194
Max Magnitude0
ClinVar
Risk rs1057517194(T;T)
Alt rs1057517194(T;T)
Reference Rs1057517194(-;-)
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.21115601dupA
CLNSRC
CLNACC RCV000410068.1,